ReviewPediatric nephrology (Berlin, Germany)2021
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Review in Pediatric nephrology (Berlin, Germany), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 28 citations in OpenAlex.
- Familial hypomagnesemia with hypercalciuria and nephrocalcinosis treated with living-donor kidney transplantation: case report.CEN case reports · 2026Article
- [Ultrasound diagnosis of nephrocalcinosis in an infant with recurrent vomiting].Atencion primaria · 2026Article
- Molecular and Genetic Determinants of Nephrocalcinosis: Mechanisms, Genotype-Phenotype Correlations, and Precision Medicine.International journal of molecular sciences · 2026Review
- X-linked hypophosphatemia in the presence of aJCEM case reports · 2026Article
- Claudin-3 is expressed at theFrontiers in physiology · 2026Article
- Familial Hypomagnesemia With Hypercalciuria and Nephrocalcinosis in a 7-Year-Old Girl: A Case Report.Clinical case reports · 2025Article
- Recurrent Nephrolithiasis and Beyond: The Long Diagnostic Odyssey of a Case of CLDN16 Mutation.Clinical case reports · 2025Article
- Characterization of ROMK cellular heterogeneity along the mouse kidney thick ascending limb.Pflugers Archiv : European journal of physiology · 2025Article
- Assessment of bone status and bone turnover in pediatric patients with familiar hypomagnesemia with hypercalciuria and nephrocalcinosis.Scientific reports · 2025Article
- Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciuria and nephrocalcinosis patients with a more aggressive renal phenotype.PLoS genetics · 2025Article
- Fanconi-Bickel syndrome complicated by nephrocalcinosis and GFR decline.Pediatric nephrology (Berlin, Germany) · 2024Article
- Identification of a Novel Homozygous Missense Mutation in the CLDN16 Gene to Decipher the Ambiguous Clinical Presentation Associated with Autosomal Dominant Hypocalcaemia and Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in an Indian Family.Calcified tissue international · 2024Article
- The role of claudins in homeostasis.Nature reviews. Nephrology · 2023Review
- Compounded Effervescent Magnesium for Familial Hypomagnesemia: A Case Report.Pharmaceuticals (Basel, Switzerland) · 2023Article
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3 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC; OMIM 248250) is a rare autosomal recessive kidney disease caused by mutations in the CLDN16 or CLDN19 genes encoding the proteins claudin-16 and claudin-19, respectively. These are involved in paracellular magnesium and calcium transport in the thick ascending limb of Henle's loop and account for most of the magnesium reabsorption in the tubules. FHHNC is characterized by hypomagnesaemia, hypercalciuria, and nephrocalcinosis, and progresses to kidney failure, requiring dialysis and kidney transplantation mainly during the second to third decades of life. Patients carrying CLDN19 mutations frequently exhibit associated congenital ocular defects leading to variable visual impairment. Despite this severe clinical course, phenotype variability even among siblings has been described in this disease, suggesting unidentified epigenetic mechanisms or other genetic or environmental modifiers. Currently, there is no specific therapy for FHHNC. Supportive treatment with high fluid intake and dietary restrictions, as well as magnesium salts, thiazides, and citrate, are commonly used in an attempt to retard the progression of kidney failure. A kidney transplant remains the only curative option for kidney failure in these patients. In this review, we summarize the current knowledge about FHHNC and discuss the remaining open questions about this disorder.
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