3,180 results match your criteria Nephrocalcinosis


A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I.

Ann Hum Genet 2019 Apr 12. Epub 2019 Apr 12.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

Four affected individuals of consanguineous kindred presented at infancy with an apparently autosomal recessive syndrome of polyuria and hypokalemic metabolic alkalosis, following maternal polyhydramnios and premature delivery, culminating in severe failure to thrive. Hypercalciuria, nephrocalcinosis, and hyperaldosteronism were further apparent as well as an unusual finding of intermittent hypernatremia. Additionally, all patients demonstrated variable micrognathia with upper respiratory airway abnormalities. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/ahg.12317
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http://dx.doi.org/10.1111/ahg.12317DOI Listing
April 2019
3 Reads

Association of enamel-renal syndrome with sialolith: A rare entity.

J Oral Maxillofac Pathol 2019 Feb;23(Suppl 1):126-129

Department of Orthodontics, Mahe Institute of Dental Sciences and Hospital, Puducherry, India.

Amelogenesis imperfecta (AI) is a disease primarily affecting amelogenesis, but other various aberrations have been reported in association with this entity. Enamel-renal syndrome (ERS) is a very rare disorder associating AI with nephrocalcinosis. It is known by various synonyms such as AI nephrocalcinosis syndrome, MacGibbon syndrome, Lubinsky syndrome and Lubinsky-MacGibbon syndrome. Read More

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http://dx.doi.org/10.4103/jomfp.JOMFP_9_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421903PMC
February 2019
1 Read

Infantile hypercalcemia with novel compound heterozygous mutation in SLC34A1 encoding renal sodium-phosphate cotransporter 2a: a case report.

Ann Pediatr Endocrinol Metab 2019 Mar 31;24(1):64-67. Epub 2019 Mar 31.

Department of Pediatrics, Keimyung University Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea.

Idiopathic infantile hypercalcemia is characterized by hypercalcemia, dehydration, vomiting, and failure to thrive, and it is due to mutations in 24-hydroxylase (CYP24A1). Recently, mutations in sodium-phosphate cotransporter (SLC34A1) expressed in the kidney were discovered as an additional cause of idiopathic infantile hypercalcemia. This report describes a female infant admitted for evaluation of nephrocalcinosis. Read More

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http://dx.doi.org/10.6065/apem.2019.24.1.64DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449619PMC
March 2019
1 Read

Disease-associated mutations of claudin-19 disrupt retinal neurogenesis and visual function.

Commun Biol 2019 25;2:113. Epub 2019 Mar 25.

1Department of Surgery, Yale University, PO Box 208062, New Haven, CT USA.

Mutations of claudin-19 cause Familial Hypomagnesaemia and Hypercalciuria, Nephrocalcinosis with Ocular Involvement. To study the ocular disease without the complications of the kidney disease, naturally occurring point mutations of human CLDN19 were recreated in human induced pluripotent cells or overexpressed in the retinae of newborn mice. In human induced pluripotent cells, we show that the mutation affects retinal neurogenesis and maturation of retinal pigment epithelium (RPE). Read More

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http://dx.doi.org/10.1038/s42003-019-0355-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6433901PMC
March 2019
1 Read

[Accidentally diagnosed distal renal tubular acidosis with nephrocalcinosis - a case report].

Pol Merkur Lekarski 2019 Mar;46(273):146-148

Medical University of Warsaw, Poland: Department of Pediatrics and Nephrology.

Distal renal tubular acidosis is a defect of acidification of urine in distal tubule. Full-blown form is characterized by polyuria, growth deficiency, nephrolithiasis or nephrocalcinosis. Mutations in genes encoding Cl-/HCO3 - exchanger (autosomal dominant) or H+-ATPase (autosomal recessive) are the most frequent in children. Read More

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March 2019
1 Read

Nephrocalcinosis in a patient with extrapulmonary tuberculosis - A rare entity.

J Family Med Prim Care 2019 Jan;8(1):296-298

Department of Medicine, RPGMC Tanda at Kangra, Himachal Pradesh, India.

Nephrocalcinosis is a rare condition in clinical practice where there is an increased renal deposition of calcium. Varied causes of this condition have been given in literature, and tuberculosis (TB) has been an important one. Hypercalcemia is a known complication of granulomatous diseases. Read More

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http://dx.doi.org/10.4103/jfmpc.jfmpc_385_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396576PMC
January 2019
1 Read

Human MiR-4660 regulates the expression of alanine-glyoxylate aminotransferase and may be a biomarker for idiopathic oxalosis.

Clin Exp Nephrol 2019 Mar 9. Epub 2019 Mar 9.

Institute of Organ Transplantation, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Background: Dysfunction of oxalate synthesis can cause calcium oxalate stone disease and inherited primary hyperoxaluria (PH) disorders. PH type I (PH1) is one of the most severe hyperoxaluria disorders, which results in urolithiasis, nephrocalcinosis, and end-stage renal disease. Here, we sought to determine the role of microRNAs in regulating AGXT to contribute to the pathogenesis of mutation-negative idiopathic oxalosis. Read More

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http://dx.doi.org/10.1007/s10157-019-01723-8DOI Listing
March 2019
1 Read
1.708 Impact Factor

Paracellular calcium transport in the proximal tubule and the formation of kidney stones.

Am J Physiol Renal Physiol 2019 Mar 6. Epub 2019 Mar 6.

Division of Nephrology and Hypertension and the Kidney Institute, University of Kansas Medical Center, United States.

The proximal tubule (PT) is responsible for the majority of calcium reabsorption by the kidney. Most PT calcium transport appears to be passive, although the molecular facilitators have not been well-established. Emerging evidence supports a major role for PT calcium transport in idiopathic hypercalciuria and the development of kidney stones. Read More

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http://dx.doi.org/10.1152/ajprenal.00519.2018DOI Listing
March 2019
2 Reads

Mice With a Brd4 Mutation Represent a New Model of Nephrocalcinosis.

J Bone Miner Res 2019 Mar 4. Epub 2019 Mar 4.

Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology, and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.

Nephrolithiasis (NL) and nephrocalcinosis (NC), which comprise renal calcification of the collecting system and parenchyma, respectively, have a multifactorial etiology with environmental and genetic determinants and affect ∼10% of adults by age 70 years. Studies of families with hereditary NL and NC have identified >30 causative genes that have increased our understanding of extracellular calcium homeostasis and renal tubular transport of calcium. However, these account for <20% of the likely genes that are involved, and to identify novel genes for renal calcification disorders, we investigated 1745 12-month-old progeny from a male mouse that had been treated with the chemical mutagen N-ethyl-N-nitrosourea (ENU) for radiological renal opacities. Read More

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http://dx.doi.org/10.1002/jbmr.3695DOI Listing
March 2019
1 Read

First-in-Asian Phase I Study of the Anti-Fibroblast Growth Factor 23 Monoclonal Antibody, Burosumab: Safety and Pharmacodynamics in Adults With X-linked Hypophosphatemia.

JBMR Plus 2019 Feb 14;3(2):e10074. Epub 2018 Sep 14.

Department of Pediatrics Osaka Hospital Japan Community Healthcare Organization (JCHO) Osaka Japan.

X-linked hypophosphatemia (XLH) is a disease caused by abnormally elevated FGF23 levels, which cause persistent hypophosphatemia accompanied by subsequent reduction in bone mineralization that presents as rickets or osteomalacia. Burosumab is a fully human monoclonal antibody targeting FGF23 that is under development for the treatment of FGF23-related hypophosphatemia including XLH. The safety, tolerability, and proof of concept of burosumab have been evaluated in patients with XLH in previous studies conducted in countries outside of Asia. Read More

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http://doi.wiley.com/10.1002/jbm4.10074
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http://dx.doi.org/10.1002/jbm4.10074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383703PMC
February 2019
7 Reads

Familial Hypomagnesemia, Hypercalciuria and Nephrocalcinosis with Novel Mutation.

Indian J Nephrol 2019 Jan-Feb;29(1):57-61

Department of Nephrology, Apollo Hospitals, Chennai, Tamil Nadu, India.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder that is caused by mutation in genes coding for tight junction proteins claudin-16 and claudin-19. It is characterized by renal wasting of magnesium and calcium associated with the development of nephrocalcinosis and renal stones by early childhood. Most of them progress to end-stage renal failure by the second or third decade. Read More

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http://www.indianjnephrol.org/preprintarticle.asp?id=248822
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http://dx.doi.org/10.4103/ijn.IJN_323_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375017PMC
March 2019
6 Reads

Expanding phenotype of mitochondrial depletion syndrome in association with TWNK mutations.

Eur J Paediatr Neurol 2019 Feb 14. Epub 2019 Feb 14.

Department of Pediatric Neurology, University Children's Hospital, 75, Steinwiesstrasse, 8032 Zurich, Switzerland. Electronic address:

Mitochondrial DNA depletion syndromes (MDS) are a group of clinically and genetically heterogeneous autosomal recessive disorders characterized by a reduction of mtDNA. We report two siblings of Armenian origin with early onset neurodegenerative disease characterized by encephalopathy, severe hypotonia, facial dyskinetic movements, abnormal eye movements, severe failure to thrive, and abnormal renal and hepatic function. Sanger sequencing confirmed two variants in the C10orf2 gene (TWNK) and indicated a diagnosis of MDS. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10903798183052
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http://dx.doi.org/10.1016/j.ejpn.2019.02.002DOI Listing
February 2019
4 Reads

Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting.

Urolithiasis 2019 Feb 23. Epub 2019 Feb 23.

Division of Nephrology, Department of Internal Medicine, University Hospital Leipzig, Liebigstr. 20, 04103, Leipzig, Germany.

Loss-of-function mutations of SLC34A3 represent an established cause of a distinct renal phosphate wasting disorder termed hereditary hypophosphatemic rickets with hypercalciuria (HHRH). SLC34A3 encodes the renal phosphate transporter NaPi2c expressed at the apical brush border of proximal renal tubules. Substitution of p. Read More

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http://dx.doi.org/10.1007/s00240-019-01116-2DOI Listing
February 2019
1 Read

Two Novel Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation.

Front Pharmacol 2019 6;10:85. Epub 2019 Feb 6.

The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha, China.

Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder characterized by a defect in the liver-specific peroxisomal enzyme alanine-glyoxylate and serine-pyruvate aminotransferase (AGT). This disorder results in hyperoxaluria, recurrent urolithiasis, and nephrocalcinosis. Three forms of PH1 have been reported. Read More

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http://dx.doi.org/10.3389/fphar.2019.00085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372570PMC
February 2019
2 Reads

Parathyroid Carcinoma and Persistent Hypercalcemia: A Case Report and Review of Therapeutic Options.

Saudi J Med Med Sci 2018 May-Aug;6(2):115-118. Epub 2018 Apr 16.

Department of Endocrinology, Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal, India.

Parathyroid carcinomas are very uncommon, accounting for 0.1% to 5% of all causes of primary hyperparathyroidism. Parathyroid-jaw tumor syndrome, with a mutation in that encodes parafibromin, is the most common genetic association. Read More

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http://dx.doi.org/10.4103/sjmms.sjmms_104_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196698PMC
April 2018
1 Read

Treatment and long-term outcome in primary distal renal tubular acidosis.

Nephrol Dial Transplant 2019 Feb 18. Epub 2019 Feb 18.

Department of Paediatric Nephrology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.

Background: Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-term outcome.

Methods: We contacted paediatric and adult nephrologists through European professional organizations. Responding clinicians entered demographic, biochemical, genetic and clinical data in an online form. Read More

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http://dx.doi.org/10.1093/ndt/gfy409DOI Listing
February 2019
6 Reads
3.577 Impact Factor

Bilateral Medullary Nephrocalcinosis Secondary to Vitamin D Toxicity: A 14-year Follow-up Report.

Indian J Endocrinol Metab 2018 Nov-Dec;22(6):853-854

Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.4103/ijem.IJEM_588_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330868PMC
February 2019
2 Reads

Fluconazole as a New Therapeutic Tool to Manage Patients With NPTIIc (SLC34A3) Mutation: A Case Report.

Am J Kidney Dis 2019 Feb 11. Epub 2019 Feb 11.

Centre de Référence des Maladies Rénales Rares, filière ORKID, Service de Néphrologie, Rhumatologie et Dermatologie Pédiatriques; Centre de Référence des Maladies Rares du Calcium et du Phosphate, filière OSCAR; Faculté de Médecine Lyon Est, Université Lyon 1, Lyon; INSERM 1033, Prévention des Maladies Osseuses, Lyon, France. Electronic address:

Mutations in the SLC34A3 gene, encoding the sodium/phosphate cotransporter 2C (NPTIIc), induce decreased renal phosphate reabsorption, hypophosphatemia, decreased fibroblast growth factor 23 and parathyroid hormone, and increased 1,25-dihydroxyvitamin D (1,25[OH]D) levels. The complete phenotype is characterized by hypophosphatemia, hypercalciuria, and nephrolithiasis/nephrocalcinosis, leading to chronic kidney disease and osteoporosis in adults. We report a 15-year-old boy referred for nephrocalcinosis. Read More

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http://dx.doi.org/10.1053/j.ajkd.2018.12.026DOI Listing
February 2019
1 Read

Nephrocalcinosis in adolescent girl with medullary sponge kidney and mild hemihypertrophy: A case report.

Medicine (Baltimore) 2019 Feb;98(7):e14529

Department of Pediatric Nephrology.

Rationale: Medullary sponge kidney (MSK) is a rare congenital abnormality characterized by cystic dilatation of the medullary collecting tubules. The disorder is likely to be complicated by nephrocalcinosis, urolithiasis, tubular dysfunctions, and urinary tract infections. In addition, it may be rarely associated with extrarenal anomalies. Read More

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http://dx.doi.org/10.1097/MD.0000000000014529DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407984PMC
February 2019
2 Reads

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.

Orphanet J Rare Dis 2019 02 13;14(1):41. Epub 2019 Feb 13.

Genome Research Division, Human Genetics department, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525KL, Nijmegen, The Netherlands.

Background: Bartter Syndrome is a rare, genetically heterogeneous, mainly autosomal recessively inherited condition characterized by hypochloremic hypokalemic metabolic alkalosis. Mutations in several genes encoding for ion channels localizing to the renal tubules including SLC12A1, KCNJ1, BSND, CLCNKA, CLCNKB, MAGED2 and CASR have been identified as underlying molecular cause. No genetically defined cases have been described in the Iranian population to date. Read More

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http://dx.doi.org/10.1186/s13023-018-0981-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375149PMC
February 2019
2 Reads

Nephrological aspects of surgical weight correction in morbid obesity.

Ter Arkh 2018 Jun;90(6):98-104

I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia (Sechenov University), Moscow, Russia.

Obesity, including morbid obesity, is a growing worldwide problem. The adverse effect of obesity on the kidneys is associated with the development of comorbid conditions, such as insulin resistance (IR), metabolic syndrome (MS), diabetes mellitus (DM), arterial hypertension (AH), which are the recognized risk factors of chronic kidney disease (СKD). Obesity also causes direct kidney damage with the development of non-immune focal segmental glomerulosclerosis. Read More

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http://ter-arkhiv.ru/en/archive/2018/vol-90-6-2018/15_2731/?
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http://dx.doi.org/10.26442/terarkh201890698-104DOI Listing
June 2018
21 Reads

Human proximal tubular cells can form calcium phosphate deposits in osteogenic culture: role of cell death and osteoblast-like transdifferentiation.

Cell Death Discov 2019 28;5:57. Epub 2019 Jan 28.

1Laboratory of Kidney Histomorphology and Molecular Biology, Clinical Nephrology, Department of Medicine-DIMED, University of Padova, Padova, Italy.

Nephrocalcinosis is a clinicopathological entity characterized by microscopic calcium crystals in the renal parenchyma, within the tubular lumen or in the interstitium. Crystal binding to tubular cells may be the cause underlying nephrocalcinosis and nephrolithiasis. Pathological circumstances, such as acute cortical necrosis, may induce healthy cells to acquire a crystal-binding phenotype. Read More

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http://dx.doi.org/10.1038/s41420-019-0138-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349935PMC
January 2019
6 Reads

Enamel renal gingival syndrome: A rare case report.

J Indian Soc Periodontol 2019 Jan-Feb;23(1):69-72

Department of Oral Pathology, Oxford Dental College and Hospital, Bengaluru, Karnataka, India.

Enamel renal syndrome is a unique syndrome associated with kidney agenesis associated with kidney agenesis, amelogenesis imperfecta, and gingival hyperplasia. The prevalence rate of this rare syndrome is <1/1,000,000. A 17-year-old male patient came to the department of periodontics, with a chief complaint of dislodged crown in the anterior teeth region. Read More

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http://dx.doi.org/10.4103/jisp.jisp_532_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6334546PMC
January 2019
4 Reads

Meeting report of the "Symposium on kidney stones and mineral metabolism: calcium kidney stones in 2017".

J Nephrol 2019 Jan 24. Epub 2019 Jan 24.

Department of Internal Medicine, and Charles and Jane Pak Center for Mineral Metabolism and Clinical Research, University of Texas Southwestern Medical Center, Dallas, TX, USA.

A symposium on kidney stones and mineral metabolism held on December 2017 in Brussels, Belgium was the first international multidisciplinary conference of the International Collaborative Network on Kidney Stones and Mineral Metabolism. This meeting addressed epidemiology, underlying pathophysiological mechanisms, genetics, pathological, as well as clinical and research topics. The participants included clinicians and recognized experts in the field from Europe and the United States interacted closely during the symposium which promoted a chance to explore new frontiers in the field of kidney stone disease. Read More

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http://dx.doi.org/10.1007/s40620-019-00587-1DOI Listing
January 2019
6 Reads

Classical complications of primary hyperparathyroidism.

Best Pract Res Clin Endocrinol Metab 2018 12 12;32(6):791-803. Epub 2018 Sep 12.

Columbia University Medical College of Physicians & Surgeons, New York, USA. Electronic address:

Traditionally, classical complications of primary hyperparathyroidism are mainly represented by skeletal, kidney and gastrointestinal involvement. The old picture of osteitis fibrosa cystica is no longer commonly seen, at least in the western world. However, new imagining techniques have highlighted deterioration of skeletal tissue in patients with primary hyperparathyroidism not captured by traditional DXA measurement. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S1521690X183010
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http://dx.doi.org/10.1016/j.beem.2018.09.001DOI Listing
December 2018
10 Reads

Crystalline Nephropathy in Renal Transplant: A Series of 4 Cases.

Indian J Nephrol 2018 Nov-Dec;28(6):472-476

Department of Nephrology, Hedi Chaker Hospital, Sfax, Tunisia.

Crystals are particles of endogenous inorganic or organic composition that can trigger kidney injury when deposited or formed inside the kidney. The most common forms of crystalline nephropathies (CNs) are nephrocalcinosis and oxalate nephropathy. The causes of early allograft dysfunction are changing constantly, and recently calcium oxalate (CaOx) crystal deposition has been added to this list. Read More

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http://dx.doi.org/10.4103/ijn.IJN_76_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309387PMC
January 2019
2 Reads

Efficacy and safety of burosumab in children aged 1-4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial.

Lancet Diabetes Endocrinol 2019 Mar 9;7(3):189-199. Epub 2019 Jan 9.

Indiana University School of Medicine, Indianapolis, IN, USA.

Background: Children with X-linked hypophosphataemia have high concentrations of circulating phosphatonin fibroblast growth factor 23 (FGF23), which causes renal phosphate wasting and hypophosphataemia, rickets, skeletal deformities, and growth impairment. Burosumab, a human monoclonal antibody against FGF23, improves phosphate homoeostasis and rickets in children aged 5-12 years with X-linked hypophosphataemia. We aimed to assess the safety and efficacy of burosumab in younger children with X-linked hypophosphataemia. Read More

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http://dx.doi.org/10.1016/S2213-8587(18)30338-3DOI Listing
March 2019
2 Reads

Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations.

BMC Med Genet 2019 Jan 8;20(1). Epub 2019 Jan 8.

Unidad de Investigación, Hospital Nuestra Señora de Candelaria, Carretera del Rosario 145, 38010, Santa Cruz de Tenerife, Spain.

Background: Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis type 1 is an autosomal recessive disease characterized by excessive renal magnesium and calcium excretion, bilateral nephrocalcinosis, and progressive chronic renal failure. This rare disease is caused by mutations in CLDN16 that encodes claudin-16, a tight-junction protein involved in paracellular reabsorption of magnesium and calcium in the renal tubule. Most of these variants are located in exons and have been classified as missense mutations. Read More

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http://dx.doi.org/10.1186/s12881-018-0713-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325764PMC
January 2019
3 Reads

Juvenile onset IIH and mutations.

Bone Rep 2018 Dec 21;9:42-46. Epub 2018 Jun 21.

Department of General Pediatrics, University Children's Hospital, Münster, Germany.

The term Idiopathic infantile hypercalcemia (IIH) was first introduced almost 70 years ago when symptomatic hypercalcemia developed in children after receiving high doses of vitamin D for the prevention of rickets. The underlying pathophysiology remained unknown until recessive mutations in encoding Vitamin D-24-hydroxylase were discovered. The defect in vitamin D degradation leads to an accumulation of active 1,25(OH)D with subsequent hypercalcemia. Read More

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http://dx.doi.org/10.1016/j.bonr.2018.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303532PMC
December 2018
9 Reads

Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead.

Authors:
Toru Watanabe

Pediatric Health Med Ther 2018 12;9:181-190. Epub 2018 Dec 12.

Department of Pediatrics, Niigata City General Hospital, Niigata City 950-1197, Japan,

Primary distal renal tubular acidosis (dRTA) is a rare genetic disorder caused by impaired distal acidification due to a failure of type A intercalated cells (A-ICs) in the collecting tubule. dRTA is characterized by persistent hyperchloremia, a normal plasma anion gap, and the inability to maximally lower urinary pH in the presence of systemic metabolic acidosis. Common clinical features of dRTA include vomiting, failure to thrive, polyuria, hypercalciuria, hypocitraturia, nephrocalcinosis, nephrolithiasis, growth delay, and rickets. Read More

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https://www.dovepress.com/improving-outcomes-for-patients-wi
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http://dx.doi.org/10.2147/PHMT.S174459DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296208PMC
December 2018
16 Reads

Next-Generation Sequencing in Early Diagnosis of Dent Disease 1: Two Case Reports.

Front Med (Lausanne) 2018 7;5:347. Epub 2018 Dec 7.

Department of Pediatrics, The Second Xiangya Hospital, Central South University, Changsha, China.

Dent disease 1 is a rare X-linked recessive inherited disease, caused by pathogenic variants in the chloride voltage-gated channel 5 () gene. Dent disease 1 is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis, and chronic kidney disease. Infants may manifest only asymptomatic LMW proteinuria, which increases the difficulty of early diagnosis. Read More

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http://dx.doi.org/10.3389/fmed.2018.00347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292867PMC
December 2018
3 Reads

Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Gene 2019 Mar 18;689:227-234. Epub 2018 Dec 18.

Unidad de Investigacion, Hospital Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain. Electronic address:

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal-recessive renal tubular disorder characterized by excessive urinary losses of magnesium and calcium, bilateral nephrocalcinosis and progressive chronic renal failure in childhood or adolescence. The disease is caused by mutations in the tight-junction proteins claudin-16 and claudin-19 that are encoded by the CLDN16 and CLDN19 genes, respectively. Patients with CLDN19 mutations also are affected with severe ocular abnormalities. Read More

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http://dx.doi.org/10.1016/j.gene.2018.12.024DOI Listing
March 2019
3 Reads

CRISPR/Cas9-mediated glycolate oxidase disruption is an efficacious and safe treatment for primary hyperoxaluria type I.

Nat Commun 2018 12 21;9(1):5454. Epub 2018 Dec 21.

Regenerative Medicine Program, Center for Applied Medical Research (CIMA), University of Navarra, IdiSNA, Pamplona, 31008, Spain.

CRISPR/Cas9 technology offers novel approaches for the development of new therapies for many unmet clinical needs, including a significant number of inherited monogenic diseases. However, in vivo correction of disease-causing genes is still inefficient, especially for those diseases without selective advantage for corrected cells. We reasoned that substrate reduction therapies (SRT) targeting non-essential enzymes could provide an attractive alternative. Read More

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http://dx.doi.org/10.1038/s41467-018-07827-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303323PMC
December 2018
9 Reads

Medullary sponge kidney and Caroli's disease in a patient with stricture urethra: look for the hidden in presence of the apparent.

BMJ Case Rep 2018 Dec 3;11(1). Epub 2018 Dec 3.

Department of Urology, King George's Medical University, Lucknow, Uttar Pradesh, India.

Caroli's disease is a rare congenital disorder with incidence rate of approximately 1 in 1 000 000 population. Renal anomalies which may be associated with Caroli's disease include medullary sponge kidney (MSK), cortical cysts, adult recessive polycystic kidney disease and rarely autosomal dominant polycystic kidney disease. Exact incidence of MSK in patients of Caroli's disease is not known. Read More

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http://dx.doi.org/10.1136/bcr-2018-226746DOI Listing
December 2018
6 Reads

Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report.

BMC Nephrol 2018 Dec 17;19(1):364. Epub 2018 Dec 17.

Central Laboratory, The Affiliated Hospital of Qingdao University, 1677 Wutaishan Road, Qingdao, 266555, China.

Background: Distal renal tubular acidosis (dRTA) is a heterogeneous disorder characterized by normal anion gap metabolic acidosis. Autosomal recessive dRTA is usually caused by mutations occurring in ATP6V1B1 and ATP6V0A4 genes,encoding subunits B1 and a4 of apical H-ATPase, respectively. The heterogeneous clinical manifestations of dRTA have been described in different ethnic groups harboring distinct mutations. Read More

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http://dx.doi.org/10.1186/s12882-018-1173-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6297984PMC
December 2018
3 Reads

Clinical aspects of the phosphate transporters NaPi-IIa and NaPi-IIb: mutations and disease associations.

Pflugers Arch 2019 Jan 13;471(1):137-148. Epub 2018 Dec 13.

Institute of Physiology, University of Zurich, Winterthurerstrasse 190, CH-8057, Zurich, Switzerland.

The Na-dependent phosphate transporter NaPi-IIa (SLC34A1) is mostly expressed in kidney, whereas NaPi-IIb (SLC34A2) has a wider tissue distribution with prominent expression in the lung and small intestine. NaPi-IIa is involved in renal reabsorption of inorganic phosphate (Pi) from urine, and patients with biallelic inactivating mutations in SLC34A1 develop hypophosphatemia, hypercalcemia, hypercalciuria and nephrocalcinosis, and nephrolithiasis in early childhood. Monoallelic mutations are frequent in the general population and may impact on the risk to develop kidney stones in adulthood. Read More

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http://dx.doi.org/10.1007/s00424-018-2246-5DOI Listing
January 2019
2 Reads

A Putative Mutation Hotspot of the AGXT Gene Associated with Primary Hyperoxaluria Type 1 in the Chinese Population.

Tohoku J Exp Med 2018 12;246(4):233-241

Department of Laboratory Animal Center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College.

Primary hyperoxaluria type 1 (PH1), a rare autosomal recessive disorder, is characterized by renal stones, nephrocalcinosis, and chronic kidney disease. PH1 is caused by defects in alanine glyoxylate aminotransferase (AGT, 392 amino-acid residues), which is encoded by the alanine-glyoxylate and serine-pyruvate aminotransferase (AGXT) gene. This study aimed to determine the clinical, biochemical, and mutation spectrum of patients with PH1 from mainland China. Read More

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http://dx.doi.org/10.1620/tjem.246.233DOI Listing
December 2018
1.283 Impact Factor

Novel therapeutic approaches in primary hyperoxaluria.

Expert Opin Emerg Drugs 2018 Dec 12:1-9. Epub 2018 Dec 12.

a Division of Pediatric Nephrology , University Childrens Hospital, Universitatsklinikum Bonn , Bonn , Germany.

Introduction: Currently, three types of primary hyperoxaluria (PH I-III) are known, all based on different gene-mutations affecting the glyoxylate metabolism in the liver. Disease hallmark is an increased endogenous oxalate production and thus massively elevated urinary excretion of oxalate and other type-specific metabolites. Hyperoxaluria induces the formation of calcium-oxalate kidney stones and/or nephrocalcinosis. Read More

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http://dx.doi.org/10.1080/14728214.2018.1552940DOI Listing
December 2018
8 Reads

Generation of a Primary Hyperoxaluria Type 1 Disease Model Via CRISPR/Cas9 System in Rats.

Curr Mol Med 2018 ;18(7):436-447

Department of Pediatric Urology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Background: Primary hyperoxaluria type 1 (PH1) is an inherited disease caused by mutations in alanine-glyoxylate aminotransferase (AGXT). It is characterized by abnormal metabolism of glyoxylic acid in the liver leading to endogenous oxalate overproduction and deposition of oxalate in multiple organs, mainly the kidney. Patients of PH1 often suffer from recurrent urinary tract stones, and finally renal failure. Read More

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http://www.eurekaselect.com/168285/article
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http://dx.doi.org/10.2174/1566524019666181212092440DOI Listing
January 2018
19 Reads

Recent advances in the identification and management of inherited hyperoxalurias.

Urolithiasis 2019 Feb 10;47(1):79-89. Epub 2018 Dec 10.

Mayo Clinic, Rochester, MN, USA.

Primary hyperoxaluria (PH) is caused by genetic mutations resulting in oxalate overproduction leading to nephrolithiasis, nephrocalcinosis, extrarenal manifestations, chronic kidney disease, and end-stage renal disease. Advances in genetic testing techniques have improved our ability to efficiently and effectively obtain a definitive diagnosis of PH as well as easily screen at-risk family members. Similarly, advances in technologies related to intervening at the genetic and molecular level promise to change the way we treat patients with PH. Read More

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http://dx.doi.org/10.1007/s00240-018-1093-3DOI Listing
February 2019
5 Reads

Urinary metabolic abnormalities in children with idiopathic hematuria.

J Pediatr Urol 2018 Nov 10. Epub 2018 Nov 10.

Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

Background: Hematuria, either macroscopic or microscopic, is an incidental finding of multiple nephrologic or urologic disorders. Disturbances of urine inhibitors or promotors have been suggested as the potential causes of isolated idiopathic hematuria in children and its recurrence. Meanwhile, appropriate treatment of these risk factors might improve secondary asymptomatic or macroscopic hematuria. Read More

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http://dx.doi.org/10.1016/j.jpurol.2018.11.003DOI Listing
November 2018
4 Reads

Improvement of bone microarchitecture parameters after 12 months of treatment with asfotase alfa in adult patient with hypophosphatasia: Case report.

Medicine (Baltimore) 2018 Nov;97(48):e13210

Rheumatology Division, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.

Rationale: Hypophosphatasia is an inborn error of metabolism that can appear any time in life, mainly with bone manifestations due to low alkaline phosphatase activity. Asfotase alfa is a specific enzyme reposition treatment that has shown promising results in children; however, there are few reports about the outcomes in adult patients.

Patient Concerns: A 36-year-old male presented with an early history of craniosynostosis, short stature, and multiple fractures since the age of 13 years-which needed numerous surgical corrections. Read More

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http://dx.doi.org/10.1097/MD.0000000000013210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283215PMC
November 2018
10 Reads

Association between furosemide in premature infants and sensorineural hearing loss and nephrocalcinosis: a systematic review.

Matern Health Neonatol Perinatol 2018 19;4:23. Epub 2018 Nov 19.

1Division of Pediatrics, University of North Carolina at Chapel Hill, UNC Hospitals 101 Manning Dr. 4th Floor, Chapel Hill, NC CB 7596 USA.

Furosemide is a potent loop diuretic commonly and variably used by neonatologists to improve oxygenation and lung compliance in premature infants. There are several safety concerns with use of furosemide in premature infants, specifically the risk of sensorineural hearing loss (SNHL), and nephrocalcinosis/nephrolithiasis (NC/NL). We conducted a systematic review of all trials and observational studies examining the association between these outcomes with exposure to furosemide in premature infants. Read More

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http://dx.doi.org/10.1186/s40748-018-0092-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240934PMC
November 2018
3 Reads

Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.

Urolithiasis 2019 Feb 23;47(1):115-123. Epub 2018 Nov 23.

UOC Nefrologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Deciding whether to accept a donor with nephrolithiasis is a multifaceted task because of the challenge of finding enough suitable donors while at the same time ensuring the safety of both donors and recipients. Until not long ago, donors with a history of renal stones or with stones emerging during screening on imaging were not considered ideal, but recent guidelines have adopted less stringent criteria for potential donors at risk of stones. This review goes through the problems that need to be approached to arrive at a wise clinical decision, balancing the safety of donors and recipients with the need to expand the organ pool. Read More

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http://dx.doi.org/10.1007/s00240-018-1092-4DOI Listing
February 2019
15 Reads

Long-Term Parathyroid Hormone 1-34 Replacement Therapy in Children with Hypoparathyroidism.

J Pediatr 2018 12;203:391-399.e1

Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.

Objective: To determine whether multiple daily injections of parathyroid hormone (PTH) 1-34 are safe and effective as long-term therapy for children with hypoparathyroidism.

Study Design: Linear growth, bone accrual, renal function, and mineral homeostasis were studied in a long-term observational study of PTH 1-34 injection therapy in 14 children.

Methods: Subjects were 14 children with hypoparathyroidism attributable to autoimmune polyglandular syndrome type 1 (N = 5, ages 7-12 years) or calcium receptor mutation (N = 9, ages 7-16 years). Read More

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http://dx.doi.org/10.1016/j.jpeds.2018.08.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6298875PMC
December 2018
22 Reads

Nephrolithiasis secondary to inherited defects in the thick ascending loop of henle and connecting tubules.

Urolithiasis 2019 Feb 20;47(1):43-56. Epub 2018 Nov 20.

Division of Nephrology and Hypertension, Inselspital, Bern University Hospital, University of Bern, Freiburgstrasse 15, 3010, Bern, Switzerland.

Twin and genealogy studies suggest a strong genetic component of nephrolithiasis. Likewise, urinary traits associated with renal stone formation were found to be highly heritable, even after adjustment for demographic, anthropometric and dietary covariates. Recent high-throughput sequencing projects of phenotypically well-defined cohorts of stone formers and large genome-wide association studies led to the discovery of many new genes associated with kidney stones. Read More

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http://dx.doi.org/10.1007/s00240-018-1097-zDOI Listing
February 2019
14 Reads

Hypophosphatemic Rickets.

Pediatr Clin North Am 2019 02;66(1):179-207

The Research Institute of the McGill University Health Centre, 1001 Boulevard Décarie, Room EM1.2232, Montreal, Quebec H4A3J1, Canada.

Hypophosphatemic rickets, mostly of the X-linked dominant form caused by pathogenic variants of the PHEX gene, poses therapeutic challenges with consequences for growth and bone development and portends a high risk of fractions and poor bone healing, dental problems and nephrolithiasis/nephrocalcinosis. Conventional treatment consists of PO4 supplements and calcitriol requiring monitoring for treatment-emergent adverse effects. FGF23 measurement, where available, has implications for the differential diagnosis of hypophosphatemia syndromes and, potentially, treatment monitoring. Read More

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http://dx.doi.org/10.1016/j.pcl.2018.09.004DOI Listing
February 2019
2 Reads
2.198 Impact Factor

Update on Dent Disease.

Pediatr Clin North Am 2019 02;66(1):169-178

Division of Nephrology, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104, USA. Electronic address:

Dent disease is an X-linked form of chronic kidney disease characterized by hypercalciuria, low molecular weight proteinuria, nephrocalcinosis, and proximal tubular dysfunction. Clinical presentation is highly variable. Male patients may present with early-onset rickets, recurrent nephrolithiasis, or insidiously with asymptomatic proteinuria or chronic kidney disease. Read More

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http://dx.doi.org/10.1016/j.pcl.2018.09.003DOI Listing
February 2019
11 Reads

Renal Tubular Acidosis.

Pediatr Clin North Am 2019 02;66(1):135-157

Division of Nephrology, Department of Pediatrics, The Montreal Children's Hospital, McGill University Health Centre, Room B RC.6651, Montreal, Quebec H4A 3J1, Canada; Al Jalila Children's Hospital, Al Jadaf PO Box 7662, Dubai, UAE. Electronic address:

Renal tubular acidosis should be suspected in poorly thriving young children with hyperchloremic and hypokalemic normal anion gap metabolic acidosis, with/without syndromic features. Further workup is needed to determine the type of renal tubular acidosis and the presumed etiopathogenesis, which informs treatment choices and prognosis. The risk of nephrolithiasis and calcinosis is linked to the presence (proximal renal tubular acidosis, negligible stone risk) or absence (distal renal tubular acidosis, high stone risk) of urine citrate excretion. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00313955183013
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http://dx.doi.org/10.1016/j.pcl.2018.08.011DOI Listing
February 2019
28 Reads
2.198 Impact Factor