ArticleAmerican journal of kidney diseases : the official journal of the National Kidney Foundation2019
Hypokalemia Associated With a Claudin 10 Mutation: A Case Report.
Article in American journal of kidney diseases : the official journal of the National Kidney Foundation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 32 citations in OpenAlex.
- HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases.Genes · 2024Article
- Altered Sweat Composition Due to Changes in Tight Junction Expression of Sweat Glands in Cholinergic Urticaria Patients.International journal of molecular sciences · 2024Article
- Claudin-10 Expression and the Gene Expression Pattern of Thick Ascending Limb Cells.International journal of molecular sciences · 2024Article
- The role of claudins in homeostasis.Nature reviews. Nephrology · 2023Review
- Genetic association study identifies genetic variants for non-alcoholic fatty liver without comorbidities in the Korean population.Genes & genomics · 2023Article
- The CLDN5 gene at the blood-brain barrier in health and disease.Fluids and barriers of the CNS · 2023Review
- Imputation-powered whole-exome analysis identifies genes associated with kidney function and disease in the UK Biobank.Nature communications · 2023Article
- Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly.Genes & diseases · 2022Article
- Claudins in kidney health and disease.Kidney research and clinical practice · 2022Article
- Pathophysiological aspects of the thick ascending limb and novel genetic defects: HELIX syndrome and transient antenatal Bartter syndrome.Pediatric nephrology (Berlin, Germany) · 2022Review
- Differential localization patterns of claudin 10, 16, and 19 in human, mouse, and rat renal tubular epithelia.American journal of physiology. Renal physiology · 2021Article
- Differential diagnosis of perinatal Bartter, Bartter and Gitelman syndromes.Clinical kidney journal · 2021Review
- Claudins in Renal Physiology and Pathology.Genes · 2020Review
- A rare cause of hypertension in childhood: Answers.Pediatric nephrology (Berlin, Germany) · 2020Article
- No tight junctions in tight junction protein-1 expressing HeLa and fibroblast cells.International journal of physiology, pathophysiology and pharmacology · 2020Article
- Mouse Models of Human Claudin-Associated Disorders: Benefits and Limitations.International journal of molecular sciences · 2019Review
- A Novel Claudinopathy Based on Claudin-10 Mutations.International journal of molecular sciences · 2019Review
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
Hypokalemia of renal origin can arise from genetic abnormalities in a variety of transporters or channel proteins that mediate tubular handling of potassium. Recently, mutations in claudin 10 have been documented in patients with hypokalemia in association with a range of other electrolyte abnormalities and skin and sweat gland manifestations. We report a 12-year-old Hispanic boy who presented with anhydrosis, aptyalism, alacrima, hypokalemia, and hypocalciuria, in whom we detected a homozygous mutation in the claudin 10 gene. During the 4-year follow-up period, he developed hypermagnesemia and a decline in estimated glomerular filtration rate to 59mL/min/1.73m
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