3,322 results match your criteria Nephrocalcinosis


A different clinical manifestation in a Japanese family with autosomal dominant distal renal tubular acidosis caused by SLC4A1 mutation.

CEN Case Rep 2020 Jul 6. Epub 2020 Jul 6.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

Mutations in SLC4A1, encoding the chloride-bicarbonate exchanger known as anion exchanger 1, have been reported as the sole genetic cause of autosomal dominant distal renal tubular acidosis (dRTA). This disorder is extremely rare and most patients show no clinical symptoms during childhood. Here, we report a case of an infant with early-onset autosomal dominant dRTA caused by SLC4A1 mutation p. Read More

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http://dx.doi.org/10.1007/s13730-020-00500-xDOI Listing

Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease.

Kidney Int 2020 Mar 23. Epub 2020 Mar 23.

Department of Nephrology, Hemodialysis and Renal Transplantation, University Hospital, Brest, France; Univ Brest, F-29200 Brest, France; National Institute for Research in Health Science (INSERM) UMR 1078, "Genetics, Genomics and Biotechnologies," Brest, France. Electronic address:

Monoallelic mutations of DNAJB11 were recently described in seven pedigrees with atypical clinical presentations of autosomal dominant polycystic kidney disease. DNAJB11 encodes one of the main cofactors of the endoplasmic reticulum chaperon BiP, a heat-shock protein required for efficient protein folding and trafficking. Here we conducted an international collaborative study to better characterize the DNAJB11-associated phenotype. Read More

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http://dx.doi.org/10.1016/j.kint.2020.02.022DOI Listing

Update of the tolerable upper intake level for vitamin D for infants.

EFSA J 2018 Aug 7;16(8):e05365. Epub 2018 Aug 7.

Following a request from the European Commission, the Panel on Dietetic Products, Nutrition and Allergies (NDA) was asked to revise the tolerable upper intake level (UL) for vitamin D for infants (≤ 1 year) set in 2012. From its literature review, the Panel concluded that the available evidence on daily vitamin D intake and the risk of adverse health outcomes (hypercalciuria, hypercalcaemia, nephrocalcinosis and abnormal growth patterns) cannot be used alone for deriving the UL for infants. The Panel conducted a meta-regression analysis of collected data, to derive a dose-response relationship between daily supplemental intake of vitamin D and mean achieved serum 25(OH)D concentrations. Read More

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http://dx.doi.org/10.2903/j.efsa.2018.5365DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7009676PMC

MiR-21 promotes calcium oxalate-induced renal tubular cell injury by targeting PPARA.

Am J Physiol Renal Physiol 2020 Jul 6. Epub 2020 Jul 6.

Department of Urology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, China.

Kidney stone disease is a crystal concretion formed in kidneys which has been associated with an increased risk of chronic kidney disease. MicroRNAs are functionally involved in kidney injury. Data mining using a microRNA array database suggested that miR-21 may be associated with calcium oxalate monohydrate (COM)-induced renal tubular cell injury. Read More

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http://dx.doi.org/10.1152/ajprenal.00132.2020DOI Listing

[Bartter-Gitelman syndromes].

Nephrol Ther 2020 Jul 1. Epub 2020 Jul 1.

Département de génétique, hôpital européen Georges-Pompidou, 20, rue Leblanc, 75015 Paris, France; Centre de Référence de maladies rénales rares de l'enfant et de l'adulte (MARHEA), Paris, France.

Bartter-Gitelman syndromes are rare inherited autosomal recessive salt-losing tubulopathies characterized by severe and chronic hypokalemia associated with metabolic alkalosis and secondary hyperaldosteronism. Bartter syndrome results from a furosemide-like defect in sodium reabsorption in the Henle's loop leading to hypercalciuria and defect in urinary concentration capacity. The antenatal Bartter syndrome is defined by polyhydramnios and an infantile polyuria with severe dehydration whereas classic Bartter syndrome appears during childhood or adulthood. Read More

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http://dx.doi.org/10.1016/j.nephro.2020.06.001DOI Listing

Biopsy-proven acute phosphate nephropathy: A case report.

World J Clin Cases 2020 Jun;8(12):2585-2589

Department of Internal Medicine, Seoul National University Bundang Hospital, Seongnam-si 13620, Gyeonggi-do, South Korea.

Background: Acute phosphate nephropathy (APN) is a disease that can occur when exposed to high doses of phosphate. The most common cause of APN is the use of oral sodium phosphate for bowel cleansing preparations. However, there are other less commonly known sources of phosphate that are equally important. Read More

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http://dx.doi.org/10.12998/wjcc.v8.i12.2585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7322417PMC

[Molecular and genetic technologies for the diagnosis of monogenic forms of urinary stone disease: clinical cases].

Urologiia 2020 Jun(3):81-86

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation, Moscow, Russia.

Kidney stone disease (KSD) is an actual problem of modern health care. By now, more than 80 monogenic forms of urolithiasis have been described. To diagnose such forms of KSD different molecular genetic technologies are used. Read More

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Transient hyponatremia of prematurity caused by mild Bartter syndrome type II: a case report.

BMC Pediatr 2020 Jun 26;20(1):311. Epub 2020 Jun 26.

Department of Pediatrics, Schulich School of Medicine and Dentistry, University of Western Ontario, 1151 Richmond Street, London, ON, N6A5C1, Canada.

Background: Bartter syndrome subtypes are a group of rare renal tubular diseases characterized by impaired salt reabsorption in the tubule, specifically the thick ascending limb of Henle's loop. Clinically, they are characterized by the association of hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. Bartter syndrome type II is caused by mutations in the renal outer medullary potassium channel (ROMK) gene (KCNJ1), can present in the newborn period and typically requires lifelong therapy. Read More

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http://dx.doi.org/10.1186/s12887-020-02214-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318402PMC

Correction to: A rare cause of nephrocalcinosis in an infant: Answers.

Pediatr Nephrol 2020 Jun 25. Epub 2020 Jun 25.

Pediatric Gastroenterology, Hepatology and Nutrition Unit, Division of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain.

Due to an unfortunate error during the processing of this article, the HTML version of this article contained a mistake. Read More

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http://dx.doi.org/10.1007/s00467-020-04651-yDOI Listing

Recurrent urinary tract infection and nephrocalcinosis: Questions.

Pediatr Nephrol 2020 Jun 23. Epub 2020 Jun 23.

Department of Pediatrics, Loma Linda University Children's Hospital, A1120-Coleman Pavilion, 11175 Campus Street, Loma Linda, CA, 92354, USA.

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http://dx.doi.org/10.1007/s00467-020-04643-yDOI Listing

Recurrent urinary tract infection and nephrocalcinosis: Answers.

Pediatr Nephrol 2020 Jun 23. Epub 2020 Jun 23.

Department of Pediatrics, Loma Linda University Children's Hospital, A1120-Coleman Pavilion, 11175 Campus Street, Loma Linda, CA, 92354, USA.

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http://dx.doi.org/10.1007/s00467-020-04650-zDOI Listing

Primary hyperoxaluria Type 1: A case report in an extended family with a novel AGXT gene mutation.

Medicine (Baltimore) 2020 Jun;99(25):e20371

Faculty of Medicine, Cairo University, Cairo, Egypt.

Introduction: Primary hyperoxaluria type 1 (PH1) is a genetic autosomal recessively inherited disorder due to mutation in the alanine-glyoxylate aminotransferase (AGXT) gene. It usually presents in children with nephrolithiasis and/or nephrocalcinosis and progressive renal function impairment and end stage renal disease (ESRD).

Patient Concerns: A 13 years old Saudi boy with history of recurrent urolithiasis since the age of 2 years presented to us with picture of ESRD. Read More

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http://dx.doi.org/10.1097/MD.0000000000020371DOI Listing

AICA-ribosiduria due to ATIC deficiency: delineation of the phenotype with three novel cases, and long-term update on the first case.

J Inherit Metab Dis 2020 Jun 18. Epub 2020 Jun 18.

Service de Génétique, CHU-Hôpital Nord, Saint-Etienne, France.

5-amino-4-imidazolecarboxamide-ribosiduria (AICA)-ribosiduria is an exceedingly rare autosomal recessive condition resulting from the disruption of the bifunctional purine biosynthesis protein PURH (ATIC), which catalyzes the last two steps of de novo purine synthesis. It is characterized biochemically by the accumulation of AICA-riboside in urine. AICA-ribosiduria had been reported in only one individual, 15 years ago. Read More

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http://dx.doi.org/10.1002/jimd.12274DOI Listing

Clinical Evidence for the Benefits of Burosumab Therapy for X-Linked Hypophosphatemia (XLH) and Other Conditions in Adults and Children.

Front Endocrinol (Lausanne) 2020 28;11:338. Epub 2020 May 28.

Discipline of Child and Adolescent Health, University of Sydney, Sydney, NSW, Australia.

Burosumab (KRN23) is an FGF23 neutralizing antibody that has been the subject of several recent clinical trials principally focused on the treatment of hypophosphatemic rickets in patients with X-linked hypophosphatemia (XLH). Since the first publications in 2014, these trials have demonstrated efficacy with minimal safety concerns in both adult and pediatric cohorts. These studies have used dose-escalation to establish a dosing regimen that is well-tolerated in clinical use. Read More

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http://dx.doi.org/10.3389/fendo.2020.00338DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7271822PMC

[Biopsychosocial care concept for children with X‑chromosomal hypophosphatemia (XLH) : Example of the multiprofessional approach of social pediatric centers].

Authors:
Dirk Schnabel

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 2020 Jul;63(7):813-820

SPZ für chronisch kranke Kinder/Pädiatrische Endokrinologie, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1 (Mittelallee 7a), 13353, Berlin, Deutschland.

Patients with severe, rare and complex diseases require the multiprofessional biopsychosocial care concept of a social pediatric center for chronically ill children and adolescents. The care concept is illustrated using the example of the multiorgan disease X‑chromosomal hypophosphatemic rickets (XLH), the most common congenital form of rickets.The disease is based on inactivating mutations in the Phosphate-regulating gene with Homologies to Endopeptidases on the X‑chromosome (PHEX) gene, which leads to an increased synthesis and secretion of fibroblast growth factor 23 (FGF23). Read More

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http://dx.doi.org/10.1007/s00103-020-03171-2DOI Listing

Pediatric Nephrolithiasis: Risk Factors, Evaluation, and Prevention.

Authors:
Sermin A Saadeh

Pediatr Ann 2020 Jun;49(6):e262-e267

Pediatric nephrolithiasis is a disease of increasing prevalence and economic burden, with data showing a rising trend among girls and adolescents. Kidney stones in children tend to have a high recurrence rate related to underlying risk factors, and the aim of evaluation should be to understand such causes so that targeted therapy can be provided to decrease recurrence and complications. Metabolic, anatomic, and genetic abnormalities as well as environmental risk factors have all been implicated in the pathogenesis of nephrolithiasis. Read More

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http://dx.doi.org/10.3928/19382359-20200518-01DOI Listing

Tissue-engineered Parathyroid Gland and Its Regulatory Secretion of Parathyroid Hormone.

J Tissue Eng Regen Med 2020 Jun 8. Epub 2020 Jun 8.

Research Center for Human Tissue and Organs Degeneration, Institute of Biomedicine and Biotechnology, Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen, R.P. China.

Parathyroid glands (PTGs) are important endocrine organs being mainly responsible for the secretion of parathyroid hormone (PTH) to regulate the balance of calcium (Ca) /phosphorus (P) ions in the body. Once PTGs get injured or removed, their resulting defect or loss of PTH secretion should disturb the level of Ca/P in blood, thus damaging other related organs (bone, kidney, etc.) and even causing death. Read More

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http://dx.doi.org/10.1002/term.3080DOI Listing

A rare cause of nephrocalcinosis in an infant: Answers.

Pediatr Nephrol 2020 Jun 4. Epub 2020 Jun 4.

Pediatric Gastroenterology, Hepatology and Nutrition Unit, Division of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain.

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http://dx.doi.org/10.1007/s00467-020-04615-2DOI Listing

A rare cause of nephrocalcinosis in an infant: Questions.

Pediatr Nephrol 2020 Jun 4. Epub 2020 Jun 4.

Pediatric Gastroenterology, Hepatology and Nutrition Unit, Division of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain.

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http://dx.doi.org/10.1007/s00467-020-04608-1DOI Listing

High occurrence rate of xanthomatosis and nephrocalcinosis in aquarium-housed Atlantic wolffish Anarhichas lupus and spotted wolffish A. minor.

Dis Aquat Organ 2020 Jun 4;139:223-232. Epub 2020 Jun 4.

Centre québécois sur la santé des animaux sauvages/Canadian Wildlife Health Cooperative, Faculté de médecine vétérinaire, Université de Montréal, St. Hyacinthe, Quebec J2S 8H5, Canada.

The Atlantic wolffish (AW) and the spotted wolffish (SW) are long-lived fish found in the North Atlantic and Arctic oceans and are respectively classified as special concern and threatened species, mainly due to fisheries bycatch. To better understand health issues associated with the care of these species in public aquaria, reports from all necropsies performed in 2 zoological institutions between 2009 and 2019 were reviewed (31 AW and 8 SW). These wolffish were fed with a similar fish-based diet and kept in multi-species exhibits with comparable environmental parameters. Read More

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http://dx.doi.org/10.3354/dao03477DOI Listing

Bartter's syndrome: clinical findings, genetic causes and therapeutic approach.

World J Pediatr 2020 Jun 1. Epub 2020 Jun 1.

Interdisciplinary Laboratory of Medical Investigation, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Av. Prof. Alfredo Balena, 190, Room # 281, Belo Horizonte, MG 30130-100, Brazil.

Backgound: Bartter's syndrome (BS) is a rare group of salt losing tubulopathies due to the impairment of transport mechanisms at the thick ascending limb of the Henle's loop.

Data Sources: Literature reviews and original research articles were collected from database, including PubMed and Scopus.

Results: According to the time of onset and symptoms, BS can be classified into antenatal and classic BS. Read More

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http://dx.doi.org/10.1007/s12519-020-00370-4DOI Listing

Continuous rhPTH (1-34) treatment in chronic hypoparathyroidism.

Endocrinol Diabetes Metab Case Rep 2020 May 29;2020. Epub 2020 May 29.

Division of Endocrinology and Diabetology, Department of Medicine I, University Hospital Würzburg, Würzburg, Germany.

Summary: Standard treatment of hypoparathyroidism consists of supplementation of calcium and vitamin D analogues, which does not fully restore calcium homeostasis. In some patients, hypoparathyroidism is refractory to standard treatment with persistent low serum calcium levels and associated clinical complications. Here, we report on three patients (58-year-old male, 52-year-old female, and 48-year-old female) suffering from severe treatment-refractory postsurgical hypoparathyroidism. Read More

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http://dx.doi.org/10.1530/EDM-20-0009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7274549PMC

CRISPR/Cas9-mediated metabolic pathway reprogramming in a novel humanized rat model ameliorates primary hyperoxaluria type 1.

Kidney Int 2020 May 25. Epub 2020 May 25.

Department of Pediatric Urology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, 1665 KongJiang Road, Shanghai, 200092, China; Children's Stone Treatment Center of National Health and Family Planning Commission of the People's Republic of China, 1665 KongJiang Road, Shanghai, 200092, China. Electronic address:

Primary hyperoxaluria type I is caused by mutations in the alanine glyoxylate aminotransferase gene (AGXT), leading to accumulation of glyoxylate and subsequent production of oxalate and urolithiasis. Here, we generated a novel rat model of primary hyperoxaluria type I that carries a D205N mutation in the partially humanized Agxt gene through the CRISPR/Cas9 system. The AgxtD205N mutant rats showed undetectable alanine glyoxylate aminotransferase protein expression, developed hyperoxaluria at 1 month of age and exhibited severe renal calcium oxalate deposition after ethylene glycol challenge. Read More

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http://dx.doi.org/10.1016/j.kint.2020.04.049DOI Listing

Trial for reduction of Ochratoxin A residues in fish feed by using nano particles of hydrated sodium aluminum silicates (NPsHSCAS) and copper oxide.

Toxicon 2020 May 22;184:1-9. Epub 2020 May 22.

Pathology Dep., Faculty of Vet. Medicine, Kafrelsheikh University, Egypt.

This paper was designed to analyze the effect of ochratoxin A (OTA) contaminated feed on the growth outcomes, certain serum biochemical, histopathology, and OTA residue in the dorsal muscle, liver, and kidney in Nile tilapia. Also, to improve the drastic effect of OTA through dietary supplementation of hydrated sodium aluminum silicates nanoparticles or nano copper. For performing the present study, 270 fish were randomly allotted into 6 equal groups according to ochratoxin and nanoparticles of hydrated sodium aluminum silicates or copper oxide. Read More

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http://dx.doi.org/10.1016/j.toxicon.2020.05.014DOI Listing

Nephrocalcinosis: Biochemical Evaluation and Genetic Analysis.

Indian Pediatr 2020 May;57(5):397-398

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant.

Neuromuscul Disord 2020 Jun 17;30(6):457-471. Epub 2020 Apr 17.

Department of Adult Neurology, Hamad Medical Corporation, Doha, Qatar.

Congenital LAMA2 related muscular dystrophy (LAMA2-RD), the most commonly recognized type of congenital muscular dystrophies, has been described in patients' cohorts from Europe and the UK but not from Middle-Eastern. This study aimed to reveal the prevalence, clinical and genomic characteristics of congenital LAMA2-RD in a patient's cohort of 17 families (21 patients) from the Gulf and Middle East. Affected subjects exhibited the classic phenotype of generalized hypotonia, developmental delay, and progressive muscular weakness. Read More

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http://dx.doi.org/10.1016/j.nmd.2020.03.009DOI Listing

Different Potent Glucocorticoids, Different Routes of Exposure but The Same Result: Iatrogenic Cushing's syndrome and Adrenal Insufficiency.

Authors:
Ayla Güven

J Clin Res Pediatr Endocrinol 2020 May 20. Epub 2020 May 20.

Health Science University Medical Faculty, Zeynep Kamil Women and Children Hospital, Pediatric Endocrinology Clinic.

Objectives: Potent glucocorticoids (GC) cause iatrogenic Cushing Syndrome (ICS) due to suppression of hypothalamo-hypophyseal-adrenal (HPA) axis and later even adrenal insufficiency (AI). The aim of this study is to review the clinical and laboratory findings of patients with ICS and to demonstrate other serious side effects.

Methods: The possibility of AI was investigated by low-dose ACTH test. Read More

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http://dx.doi.org/10.4274/jcrpe.galenos.2020.2019.0220DOI Listing

Effects of bodybuilding supplements on the kidney: A population-based incidence study of biopsy pathology and clinical characteristics among middle eastern men.

BMC Nephrol 2020 May 6;21(1):164. Epub 2020 May 6.

Department of Pathology, University of Sulaimani College of Medicine and Shoresh Teaching Hospital, Quirga Road, Sulaimani, Iraq.

Background: The incidence of kidney diseases among bodybuilders is unknown.

Methods: Between January 2011 and December 2019, the Iraqi Kurdistan 15 to 39 year old male population averaged 1,100,000 with approximately 56,000 total participants and 25,000 regular participants (those training more than 1 year). Annual age specific incidence rates (ASIR) with (95% confidence intervals) per 100,000 bodybuilders were compared with the general age-matched male population. Read More

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http://dx.doi.org/10.1186/s12882-020-01834-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203829PMC

Biallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes.

Endocr Connect 2020 Jun;9(6):530-541

Department of Clinical Biochemistry, SUHCG, GUH, Galway, Ireland.

Introduction: Inactivating mutations in CYP24A1, encoding vitamin D-24-hydroxylase, can lead to an accumulation of active vitamin D metabolites and consequent hypercalcaemia. Patient (infantile and adult) presentation is varied and includes mild-severe hypercalcaemia, hypercalciuria, nephrocalcinosis and nephrolithiasis. This study aimed to characterize the clinical and biochemical phenotypes of a family with two CYP24A1 missense variants. Read More

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http://dx.doi.org/10.1530/EC-20-0150DOI Listing

The use of cinacalcet after pediatric renal transplantation: an international CERTAIN Registry analysis.

Pediatr Nephrol 2020 May 4. Epub 2020 May 4.

Reference Center for Rare Renal Disorders, Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Department of Pediatric Nephrology, Rheumatology and Dermatology, Femme Mère Enfant Hospital, Bron Cedex, France.

Background: Secondary hyperparathyroidism (SHPT) may persist after renal transplantation (RTx), inducing hypophosphatemia and hypercalcemia that precludes the use of vitamin D analogs. The calcimimetic cinacalcet improved plasma calcium and parathyroid hormone (PTH) levels in randomized controlled trials in adults after RTx, but pediatric data are scarce.

Methods: In this retrospective study, we analyzed 20 pediatric patients from the Cooperative European Paediatric Renal TransplAnt Initiative (CERTAIN) Registry who received cinacalcet after RTx. Read More

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http://dx.doi.org/10.1007/s00467-020-04558-8DOI Listing

Atypical clinical presentation of distal renal tubular acidosis: a case report registered in Amazonas, Brazil.

J Bras Nefrol 2020 Apr 27. Epub 2020 Apr 27.

Universidade Federal do Amazonas, Hospital Universitário Getúlio Vargas, Manaus, AM, Brasil.

We report an unusual case of a 24-year-old girl with a history of recurrent hypokalemic paralysis episodes and skin lesions on the lower limbs and buttocks, both of which had an acute evolution. In subsequent investigations, the patient also had nephrocalcinosis, nephrolithiasis, hyperchloremic metabolic acidosis and persistent alkaline urinary pH. The findings were consistent with distal renal tubular acidosis as the cause of hypokalemic paralysis. Read More

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http://dx.doi.org/10.1590/2175-8239-JBN-2019-0224DOI Listing

Primary hyperparathyroidism.

Best Pract Res Clin Rheumatol 2020 Apr 23:101514. Epub 2020 Apr 23.

Serviço de Endocrinologia e Metabologia do Hospital de Clínicas da Universidade Federal do Paraná (SEMPR), Curitiba, Brazil; Lab Pro, Bone Histomorphometry, Fundação Pro Renal, Curitiba, Brazil. Electronic address:

Primary hyperparathyroidism (PHPT) is a condition that affects calcium metabolism due to parathyroid hormone (PTH) hypersecretion leading to hypercalcemia. Manifestations have changed over time, from a symptomatic disease with bone pain, fractures, nephrolithiasis, and muscle weakness, to a condition that is mainly asymptomatic (80-90%). Typical symptoms and signs occur in the bones and kidneys and atypical manifestations are cardiovascular, neuropsychiatric and cognitive, neuromuscular, rheumatological, and gastrointestinal. Read More

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http://dx.doi.org/10.1016/j.berh.2020.101514DOI Listing

Response to Letter to the Editor: "Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors".

J Endocr Soc 2020 Apr 5;4(4):bvaa014. Epub 2020 Feb 5.

Osteometabolic Disorders Unit, Endocrinology Department, Division of Internal Medicine, Hospital das Clinicas da Universidade de São Paulo HCFMUSP, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1210/jendso/bvaa014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7153747PMC

Linear Calcification along the Renal Corticomedullary Junction.

Intern Med 2020 Apr 16. Epub 2020 Apr 16.

Nephrology Center, Toranomon Hospital Kajigaya, Japan.

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http://dx.doi.org/10.2169/internalmedicine.4414-20DOI Listing

Review of diseases and health management in zebrafish Danio rerio (Hamilton 1822) in research facilities.

J Fish Dis 2020 Jun 14;43(6):637-650. Epub 2020 Apr 14.

Zebrafish International Resource Center, Eugene, Oregon.

The use of zebrafish (Danio rerio) in biomedical research has expanded at a tremendous rate over the last two decades. Along with increases in laboratories using this model, we are discovering new and important diseases. We review here the important pathogens and diseases based on some 20 years of research and findings from our diagnostic service at the NIH-funded Zebrafish International Resource Center. Read More

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http://dx.doi.org/10.1111/jfd.13165DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253333PMC

Plasma oxalate levels in primary hyperoxaluria type I show significant intra-individual variation and do not correlate with kidney function.

Pediatr Nephrol 2020 Jul 9;35(7):1227-1233. Epub 2020 Apr 9.

Division of Pediatric Nephrology, Department of Pediatrics, University Children's Hospital Bonn, Bonn, Germany.

Background: Primary hyperoxalurias are rare diseases with endogenous overproduction of oxalate, thus leading to hyperoxaluria, hyperoxalemia, urolithiasis, and/or nephrocalcinosis and eventually early kidney failure. Plasma oxalate (POx) is an important diagnostic parameter in clinical studies on primary hyperoxaluria (PH). This is especially the case in kidney failure, where urinary parameters are no longer suitable. Read More

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http://dx.doi.org/10.1007/s00467-020-04531-5DOI Listing

Phosphate Metabolism in Health and Disease.

Authors:
Munro Peacock

Calcif Tissue Int 2020 Apr 7. Epub 2020 Apr 7.

Division of Endocrinology, Department of Medicine, Indiana University School of Medicine, 1120 W Michigan Street, CL365, Indianapolis, IN, 46202, USA.

Phosphorus, a 5A element with atomic weight of 31, comprises just over 0.6% of the composition by weight of plants and animals. Three isotopes are available for studying phosphorus metabolism and kinetics. Read More

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http://dx.doi.org/10.1007/s00223-020-00686-3DOI Listing

Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra.

Mol Genet Genomics 2020 Jul 3;295(4):923-931. Epub 2020 Apr 3.

Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.

Amelogenesis imperfecta type IG (AI1G) is caused by mutations in FAM20A. Genotypic and phenotypic features of AI1G are diverse and their full spectra remain to be characterized. The aim of this study was to identify and summarize variants in FAM20A in a broad population of patients with AI1G. Read More

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http://dx.doi.org/10.1007/s00438-020-01668-8DOI Listing

Disseminated Cutaneous Tophi in a Patient with Chronic Tophaceous Gout and Renal Impairment: A Case Report of a Rare Manifestation of Gout.

Am J Case Rep 2020 Apr 3;21:e919349. Epub 2020 Apr 3.

Department of Pathology Anatomy, Faculty of Medicine Universitas Indonesia-Rumah Sakit Umum Pusat Nasional Cipto Mangunkusumo, Jakarta, Indonesia.

BACKGROUND Gout is a metabolic disease characterized by deposition of monosodium urate (MSU) crystals called tophi. The typical location of tophi is in the joint and will chronically damage the joint. However, there is a rare atypical dermatologic manifestation of tophi that occur extensively in the skin. Read More

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http://dx.doi.org/10.12659/AJCR.919349DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7161940PMC

Hypophosphataemic Rickets: Similar Phenotype of Different Diseases.

Adv Ther 2020 May 31;37(Suppl 2):80-88. Epub 2020 Mar 31.

Sección de Nefrología Pediátrica, Hospital Universitario La Fe, Valencia, Spain.

Hypophosphataemic rickets (HR) is a group of rare disorders caused by excessive renal phosphate wasting in which the participation of fibroblast growth factor 23 (FGF23) can be prominent. These diseases pose therapeutic challenges with important consequences for growth and bone development in childhood, with higher risk of fractures and poorer bone healing, dental problems, and nephrolithiasis or nephrocalcinosis. In some cases, the diagnostic delay can be very long; laboratory findings and an exhaustive anamnesis could help distinguish between various pathologies, and FGF23 values-although currently not routinely measured-have implications for the differential diagnosis. Read More

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http://dx.doi.org/10.1007/s12325-019-01182-3DOI Listing

Complications of Phosphate and Vitamin D Treatment in X-Linked Hypophosphataemia.

Adv Ther 2020 May 31;37(Suppl 2):105-112. Epub 2020 Mar 31.

Servicio de Nefrología Pediátrica y Trasplante Renal, Hospital Sant Joan de Déu, Barcelona, Spain.

Conventional treatment of X-linked hypophosphataemia (XLH) consists in the oral administration of phosphate plus calcitriol supplements. Although this therapy has reduced bone deformities and even achieved adequate patient growth, overtreatment or low adherence could lead to subsequent consequences that may compromise the efficacy of the therapy. Some of the complications associated with phosphate and vitamin D treatment are abdominal discomfort, diarrhoea, hypokalaemia, hyperparathyroidism, hypercalcaemia or hypercalciuria, nephrocalcinosis or nephrolithiasis, and ectopic calcifications. Read More

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http://dx.doi.org/10.1007/s12325-019-01170-7DOI Listing

A case of Type 1 Dent disease presenting with isolated persistent proteinuria.

Turk Pediatri Ars 2020 9;55(1):72-75. Epub 2020 Mar 9.

Department of Pediatric Nephrology, Dr. Sami Ulus Training and Research Hospital of Women's and Children's Health and Diseases, Ankara, Turkey.

Dent disease is a rare X-linked recessive tubular disorder, characterized by the triad of low molecular-weight proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis. It is caused by mutations in the gene or gene. Thirty to 80% of affected males develop end-stage kidney disease between the ages of 30 and 50 years. Read More

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http://dx.doi.org/10.5152/TurkPediatriArs.2018.6540DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7096570PMC

Etiological Profile of Nephrocalcinosis in Children from Southern India.

Indian Pediatr 2020 May 12;57(5):415-419. Epub 2020 Mar 12.

Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India.

Objective: To study the etiological profile and patterns of clinical presentation of nephrocalcinosis.

Methods: In this observational study, patients 18 years or younger, referred to the pediatric nephrology clinic with nephrocalcinosis were evaluated for etiology. Symptoms/signs at presentation, estimated glomerular filtration rate (eGFR) at presentation and follow-up, and growth parameters were recorded. Read More

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Low PTH Levels in Adolescents With Anorexia Nervosa.

Front Pediatr 2020 11;8:99. Epub 2020 Mar 11.

Department of Paediatrics, University of Toronto, Toronto, ON, Canada.

Patients with anorexia nervosa (AN) experience medical complications including impaired bone metabolism, increased fracture rate, kidney stones and chronic renal failure. However, the mechanisms of such complications are not fully understood. Healthy adolescents have been shown to have higher PTH levels when compared with pre-pubertal children and adults. Read More

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http://dx.doi.org/10.3389/fped.2020.00099DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078244PMC

Incomplete distal renal tubular acidosis in children.

Acta Paediatr 2020 Mar 25. Epub 2020 Mar 25.

University of Oviedo, Oviedo, Spain.

Aim: To describe incomplete distal renal tubular acidosis (iDRTA) in paediatric patients, a term used for the diagnosis of patients who do not develop spontaneous overt metabolic acidosis but are unable to acidify the urine in response to an ammonium chloride load.

Methods: Tests used to explore urinary acidification were revised. In addition, publications in English extracted from 161 entries yielded by a PubMed database search, using 'incomplete distal renal tubular acidosis' as keyword, were reviewed. Read More

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http://dx.doi.org/10.1111/apa.15269DOI Listing

[Secondary hyperaldosteronism and medullary nephrocalcinosis caused by self-administered and uncontrolled laxative use in an adolescent patient].

Probl Endokrinol (Mosk) 2019 12 25;65(4):263-267. Epub 2019 Dec 25.

Arkhangelsk Children's Clinical Hospital named after P.G. Vyzhletsov.

Secondary hyperaldosteronism is respondent aldosterone secretion increase, occurring due to some diseases or drug use. It may be accompanied by normal arterial pressure with/without water retention or arterial hypertension without water retention. Secondary hyperaldosteronism without arterial hypertension and without water retention is usually caused by the use of laxative and diuretic drugs. Read More

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http://dx.doi.org/10.14341/probl9946DOI Listing
December 2019

Isolated nephrocalcinosis due to compound heterozygous mutations in renal outer medullary potassium channel.

CEN Case Rep 2020 Aug 17;9(3):232-236. Epub 2020 Mar 17.

Division of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.

Identification of a monogenic etiology is possible in a proportion of patients with childhood-onset nephrolithiasis or nephrocalcinosis. Bartter syndrome (BS), a hereditary tubulopathy characterized by polyuria, hypokalemic alkalosis and growth retardation that rarely presents with isolated nephrocalcinosis. Patients with defect in renal outer medullary potassium channel, encoded by the KCNJ1 gene causing BS type 2, typically present during the neonatal period. Read More

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http://dx.doi.org/10.1007/s13730-020-00464-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7320131PMC

Involvement of estrogen in phosphorus-induced nephrocalcinosis through fibroblast growth factor 23.

Sci Rep 2020 Mar 17;10(1):4864. Epub 2020 Mar 17.

Division of Research and Development, Meiji Co., Ltd., Tokyo, 192-0919, Japan.

Excessive phosphorus intake adversely affects bone and mineral metabolism. Estrogen is one of the factors affecting fibroblast growth factor 23 (FGF23), a phosphorus-regulating hormone. However, the interaction between excess phosphorus and estrogen status has not been fully elucidated. Read More

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http://dx.doi.org/10.1038/s41598-020-61858-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078323PMC