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| http://dx.doi.org/10.4103/aian.aian_38_23 | DOI Listing |
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Amelogenesis imperfecta in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Kidney Int
February 2025
Division of Nephrology, ULiège Academic Hospital, Liège, Belgium. Electronic address:
A Novel Heterozygous and Pathogenic Variant of the HNF1B Gene Associated with Autosomal Dominant Tubulointerstitial Kidney Disease with a Broad Spectrum of Extrarenal Phenotypes: A Case Report.
Intern Med
January 2025
Department of Nephrology, The University of Osaka Graduate School of Medicine, Japan.
We encountered a family with hereditary renal failure, renal medullary cysts, pancreatic hypoplasia, hypomagnesemia, liver enzyme abnormalities, and diabetes mellitus (DM). We identified a novel heterozygous variant of HNF1B (NM_000458.4:c.
View Article and Find Full Text PDFMolecular Basis of Na, K-ATPase Regulation of Diseases: Hormone and FXYD2 Interactions.
Int J Mol Sci
December 2024
Instituto de Bioquímica Médica Leopoldo de Meis, Centro de Ciências da Saúde, Universidade Federal do Rio de Janeiro, Rio de Janeiro 21941-590, RJ, Brazil.
The Na, K-ATPase generates an asymmetric ion gradient that supports multiple cellular functions, including the control of cellular volume, neuronal excitability, secondary ionic transport, and the movement of molecules like amino acids and glucose. The intracellular and extracellular levels of Na and K ions are the classical local regulators of the enzyme's activity. Additionally, the regulation of Na, K-ATPase is a complex process that occurs at multiple levels, encompassing its total cellular content, subcellular distribution, and intrinsic activity.
View Article and Find Full Text PDFPediatric hypoparathyroidism: etiological and clinical evaluation in a tertiary center.
Endocrine
November 2024
Department of Pediatric Endocrinology, Basaksehir Cam and Sakura City Hospital, Istanbul, Türkiye.
Purpose: This study aims to evaluate the etiology, clinical presentation, and management of pediatric hypoparathyroidism in a tertiary center.
Methods: A retrospective review was conducted on pediatric patients diagnosed with hypoparathyroidism at the Pediatric Endocrinology Clinic from March 2021 to June 2023. Data on demographic characteristics, presenting symptoms, laboratory findings, genetic analyses, and treatment outcomes were collected.
A narrative review of monogenic disorders causing nephrolithiasis and chronic kidney disease.
Nephrology (Carlton)
December 2024
Department of Clinical Pharmacy, School of Pharmacy, Tehran University of Medical Sciences, Tehran, Iran.
Article Synopsis
- - The incidence of genetic diseases linked to chronic kidney disease (CKD) has been on the rise, prompting a review of monogenic causes related to kidney stone disorders.
- - Identified monogenic conditions include primary hyperoxaluria, cystinuria, and Dent disease, all of which can lead to CKD and possibly progress to end-stage kidney disease (ESKD).
- - It's important to conduct genetic testing in children with kidney stones, as a significant number of these patients may develop CKD due to underlying genetic disorders.
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