ArticleIndian journal of nephrology
Familial Hypomagnesemia, Hypercalciuria and Nephrocalcinosis with Novel Mutation.
Article in Indian journal of nephrology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 7 citations in OpenAlex.
- Recurrent Nephrolithiasis and Beyond: The Long Diagnostic Odyssey of a Case of CLDN16 Mutation.Clinical case reports · 2025Article
- Incidental chronic kidney disease in an obese child with high myopia: Answers.Pediatric nephrology (Berlin, Germany) · 2021Article
- Claudins in Renal Physiology and Pathology.Genes · 2020Review
- Bones, Stones, and Hematuria - Connecting the Dots.Indian journal of nephrologyArticle
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Authors and funding
2 authors at 1 institution in 1 country.
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Abstract
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. Here, we report two siblings with FHHNC, who presented with nephrocalcinosis without any extrarenal manifestations, one of them having novel homozygous nonsense mutation in claudin-16 (CLDN16) (c.620G>A, p. Trp207Ter). Both were treated with dietary changes, hydrochlorothiazide, potassium citrate, and magnesium supplementation. FHHNC is a rare cause of nephrocalcinosis, and we believe that it should be considered in the presence of nephrocalcinosis with hypercalciuria and hypomagnesemia.
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