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Article

Follow-up of five patients with FHHNC due to mutations in the Paracellin-1 gene.

Pediatric nephrology (Berlin, Germany) - 1 Aug 2002

Wolf Matthias T F, Dötsch Jörg, Konrad Martin, Böswald Michael, Rascher Wolfgang

Abstract excerpt

Familial hypomagnesemia, hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive inherited disorder that has recently been attributed to a defect in the paracellin-1 ( PCLN-1)gene, encoding for a protein responsible for the tubular reabsorption of magnesium and calcium. Limited information is available on clinical course, therapy and prognosis. We provide information on five patients with FHHNC...

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Identifiers

PMID: 12185465
DOI: 10.1007/s00467-002-0884-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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