3,158 results match your criteria Nephrocalcinosis


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
1 Read
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
1 Read

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
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 Feb 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
February 2019
1 Read

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
9 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
2 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
2 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
1 Read

Classical complications of primary hyperparathyroidism.

Best Pract Res Clin Endocrinol Metab 2018 Dec 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
3 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
1 Read

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
1 Read

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
2 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
1 Read

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
6 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
2 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
2 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
4 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
2 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
1 Read

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
4 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
16 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
3 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
2 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
9 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
2 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
8 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
10 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
9 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
1 Read
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
7 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
13 Reads
2.198 Impact Factor

Hypoparathyroidism in children: a study of eight cases.

Tunis Med 2018 Aug - Sep;96(8-09):472-476

Background: Hypoparathyroidism is a rare pediatric endocrine disease, which is caused by low circulating levels of PTH or insensitivity to its action in the target tissues.

Aim: To report the clinical and biochemical characteristics and theoutcome of 8 patients with hypoparathyroidism.

Methods: We analyzed retrospectively the results of clinical, biochemical, radiological findings of patients with hypoparathyroidism diagnosed in pediatric department of Hedi Chaker Hospital during the period 1994-2013. Read More

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November 2018
36 Reads

[Michaelis-Manz syndrome. A case report].

An Sist Sanit Navar 2018 Dec 26;41(3):393-396. Epub 2018 Dec 26.

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Michaelis-Manz syndrome is an autosomal recessive hereditary tubulopathy associated with mutations in the tight-junction proteins claudin-16 and claudin-19, which are present in the distal convoluted tubule and the loop of Henle in the kidney. Claudin-19 is also expressed in the retinal pigmentary epithelium. The clinical picture causes hypomagnesemia, hyper-calciuria and nephrocalcinosis that can lead to renal failure, which is the condition that marks the prognosis of the disease. Read More

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http://dx.doi.org/10.23938/ASSN.0377DOI Listing
December 2018
3 Reads

Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia.

Eur J Med Genet 2018 Nov 10. Epub 2018 Nov 10.

CHU de Caen, Department of Genetics, Molecular Genetics Laboratory and Reference Center for Rare Diseases of Calcium and Phosphorus Metabolism, Caen, F-14000, France; Université Caen Normandie, Medical School, Caen, F14000, France; BioTARGEN, Université Caen Normandie, Caen, F14000, France.

Loss-of-function mutations in CYP24A1 (MIM 126065 20q13.2), the gene encoding the 24-hydroxylase responsible for 25-OH-D and 1,25-(OH)D degradation, are identified in about 20% of patients presenting Idiopathic Infantile Hypercalcemia (IIH) (MIM 143880). Common features of this autosomal recessive condition included hypercalcemia with hypercalciuria, suppressed PTH and a high 25-OH-D:24,25-(OH)D ratio. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183026
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http://dx.doi.org/10.1016/j.ejmg.2018.11.011DOI Listing
November 2018
8 Reads

Barttin Regulates the Subcellular Localization and Posttranslational Modification of Human Cl/H Antiporter ClC-5.

Front Physiol 2018 23;9:1490. Epub 2018 Oct 23.

Institute for Neurophysiology, Hannover Medical School, Hanover, Germany.

Dent disease 1 (DD1) is a renal salt-wasting tubulopathy associated with mutations in the Cl/H antiporter ClC-5. The disease typically manifests with proteinuria, hypercalciuria, nephrocalcinosis, and nephrolithiasis but is characterized by large phenotypic variability of no clear origin. Several DD1 cases have been reported lately with additional atypical hypokalemic metabolic alkalosis and hyperaldosteronism, symptoms usually associated with another renal disease termed Bartter syndrome (BS). Read More

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https://www.frontiersin.org/article/10.3389/fphys.2018.01490
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http://dx.doi.org/10.3389/fphys.2018.01490DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6206076PMC
October 2018
5 Reads

Urothelium proliferation is a trigger for renal crystal deposits in a murine lithogenesis model.

Sci Rep 2018 Nov 5;8(1):16319. Epub 2018 Nov 5.

Sorbonne Université, INSERM, UMR_S 1155, AP-HP, Hôpital Tenon, 4 rue de la Chine, 75020, Paris, France.

Most mouse kidney stone models induce nephrocalcinosis rather than urolithiasis. The aim of our study was to find an accelerated experimental model in order to study the early events of stone formation, that is, at the time of crystal binding to intrarenal urothelium. C57B6 mice exposed to vitamin D supplements and water containing hydroxyl-L-proline, ammonium chloride and calcium chloride were studied for 42 days. Read More

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http://dx.doi.org/10.1038/s41598-018-34734-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218513PMC
November 2018
2 Reads

An N-Ethyl-N-Nitrosourea (ENU)-Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice.

J Bone Miner Res 2018 Nov 5. Epub 2018 Nov 5.

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

Renal calcification (RCALC) resulting in nephrolithiasis and nephrocalcinosis, which affects ∼10% of adults by 70 years of age, involves environmental and genetic etiologies. Thus, nephrolithiasis and nephrocalcinosis occurs as an inherited disorder in ∼65% of patients, and may be associated with endocrine and metabolic disorders including: primary hyperparathyroidism, hypercalciuria, renal tubular acidosis, cystinuria, and hyperoxaluria. Investigations of families with nephrolithiasis and nephrocalcinosis have identified some causative genes, but further progress is limited as large families are unavailable for genetic studies. Read More

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http://doi.wiley.com/10.1002/jbmr.3624
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http://dx.doi.org/10.1002/jbmr.3624DOI Listing
November 2018
13 Reads

Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families.

Eur J Med Genet 2018 Oct 28. Epub 2018 Oct 28.

Department of Dentistry, Federal University of Jequitinhonha and Mucuri Valleys, UFVJM, Brazil.

Enamel renal syndrome (ERS) is a rare autosomal recessive disorder not fully characterized. Here we investigated ERS characteristics in 11 patients from 5 Brazilian families through clinical examination, imaging, renal ultrasonography, laboratory tests and DNA sequencing. The patients' age ranged from 6 to 25 years-old, and the presence of hypoplastic amelogenesis imperfecta, microdontia, intra-pulpal calcification, impacted posterior teeth with hyperplastic pericoronal follicles, gingival fibromatosis, ectopic calcifications on gingival and pericoronal tissues, and nephrocalcinosis were common findings to all patients. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183024
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http://dx.doi.org/10.1016/j.ejmg.2018.10.013DOI Listing
October 2018
15 Reads

Stone-free Outcomes of Flexible Ureteroscopy for Renal Calculi Utilizing Computed Tomography Imaging.

Urology 2019 Feb 2;124:52-56. Epub 2018 Nov 2.

Indiana University School of Medicine, Department of Urology, Indianapolis, IN. Electronic address:

Objective: To assess stone-free rates following ureteroscopy (URS) for renal calculi at our institution using low-dose renal only computed tomography (CT).

Methods: A retrospective review of patients undergoing flexible URS for renal stones only with subsequent CT scan within 3 months. Meticulous basketing of all stone fragments was performed whenever possible. Read More

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http://dx.doi.org/10.1016/j.urology.2018.09.005DOI Listing
February 2019
4 Reads

An initial evaluation of hypokalemia turned out distal renal tubular acidosis secondary to parathyroid adenoma.

Saudi J Kidney Dis Transpl 2018 Sep-Oct;29(5):1216-1219

Department of Nephrology, Government Medical College and Super Specialty Hospital, Nagpur, Maharashtra, India.

Primary hyperparathyroidism (PHPT) usually presents with hypercalcemia related symptoms and signs. Kidneys play an important role in calcium homeostasis. PHPT has been reported to be associated with hyperchloremia, defective urinary acidification, and renal tubular acidosis (RTA). Read More

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http://dx.doi.org/10.4103/1319-2442.243965DOI Listing
November 2018
4 Reads

The Management of Permanent Primary Hypoparathyroidism in Children and Adolescents: A Complex Task.

Pediatr Endocrinol Rev 2018 Sep;16(1):194-202

First Department of Paediatrics "Agia Sophia" Children's Hospital, National Kapodistrian University of Athens, Athens, Greece.

Management of hypoparathyroidism (hypoPT), depends on the etiology and the severity of hypocalcemia. Treatment goals include control of hypocalcemic symptoms preserving serum calcium in the low-normal range and phosphate in the high normal range. While correction of serum calcium to low-normal range does not fully correct mineral and bone metabolism it may be associated with increased risk of complications such as nephrolithiasis, nephrocalcinosis and soft tissue calcifications. Read More

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www.pediatricendoreviews.com
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http://dx.doi.org/10.17458/per.vol16.2018.stsm.hypoparathyroidismDOI Listing
September 2018
4 Reads

Diagnosis and management of hypercalcemia associated with silicone-induced granuloma.

Rev Assoc Med Bras (1992) 2018 Jul;64(7):575-576

Department of Neurological Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.

Hypercalcemia associated with silicone-induced granuloma is a rare disease. Diagnosis can be tricky as it is established after ruling out other hypercalcemia-causing entities. In addition, management is customized depending on the patient's wishes and possible solutions. Read More

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http://dx.doi.org/10.1590/1806-9282.64.07.575DOI Listing
July 2018
4 Reads
0.920 Impact Factor

Re: Nephrolithiasis and Nephrocalcinosis from Topiramate Therapy in Children with Epilepsy.

Authors:
Dean G Assimos

J Urol 2018 Nov 7;200(5):940. Epub 2018 Aug 7.

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http://dx.doi.org/10.1016/j.juro.2018.07.072DOI Listing
November 2018
3 Reads

Acute renal failure due to severe hypercalcemia and nephrocalcinosis treated with two doses of pamidronate in an infant with Williams-Beuren syndrome.

Turk J Pediatr 2018 ;60(2):210-215

Departments of Pediatric Nephrology, Kayseri Training and Research Hospital, Kayseri, Turkey.

Baştuğ F, Nalçacıoğlu H, Baş VN, Tekatlı-Çelik B, Çetinkaya H, Yel S. Acute renal failure due to severe hypercalcemia and nephrocalcinosis treated with two doses of pamidronate in an infant with Williams-Beuren syndrome. Turk J Pediatr 2018; 60: 210-215. Read More

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http://dx.doi.org/10.24953/turkjped.2018.02.017DOI Listing
January 2018
8 Reads

The Long Pentraxin PTX3 Is an Endogenous Inhibitor of Hyperoxaluria-Related Nephrocalcinosis and Chronic Kidney Disease.

Front Immunol 2018 25;9:2173. Epub 2018 Sep 25.

Nephrologisches Zentrum, Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany.

The long pentraxin 3 (PTX3) exerts a variety of regulatory functions in acute and chronic tissue inflammation. In particular, PTX3 acts as an opsonin for a variety of pathogens and endogenous particles. We hypothesized that PTX3 would exhibit opsonin-like functions toward calcium oxalate crystals, too, and inhibit crystal growth. Read More

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https://www.frontiersin.org/article/10.3389/fimmu.2018.02173
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http://dx.doi.org/10.3389/fimmu.2018.02173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167460PMC
September 2018
4 Reads

Novel Homozygous Deletion in STRADA Gene Associated With Polyhydramnios, Megalencephaly, and Epilepsy in 2 Siblings: Implications for Diagnosis and Treatment.

J Child Neurol 2018 Dec 12;33(14):925-929. Epub 2018 Oct 12.

2 Department of Neurology, Division of Child Neurology, Indiana University School of Medicine, Indianapolis, IN, USA.

Mutations in the STE20-related kinase adaptor α ( STRADA) gene have been reported to cause an autosomal recessive neurodevelopmental disorder characterized by infantile-onset epilepsy, developmental delay, and craniofacial dysmorphisms. To date, there have been 17 reported individuals diagnosed with STRADA mutations, 16 of which are from a single Old Order Mennonite cohort and share a deletion of exons 9-13. The remaining individual is of consanguineous Indian descent and has a homozygous single-base pair duplication. Read More

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http://dx.doi.org/10.1177/0883073818802724DOI Listing
December 2018
12 Reads

Defining renal phenotype in Alström syndrome.

Nephrol Dial Transplant 2018 Oct 10. Epub 2018 Oct 10.

Department of Endocrinology, Queen Elizabeth Hospital, Edgbaston, Birmingham, UK.

Background: Alström syndrome (AS) is a rare autosomal recessive ciliopathy with a wide spectrum of clinical features, including cone-rod retinal dystrophy, neuronal deafness, severe insulin resistance and major organ failure. The characteristics of renal disease in the syndrome have not been systematically described. The aim of this study is to define the onset and progression of renal disease in AS. Read More

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https://academic.oup.com/ndt/advance-article/doi/10.1093/ndt
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http://dx.doi.org/10.1093/ndt/gfy293DOI Listing
October 2018
10 Reads