Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: report of three Turkish siblings

Küçük Resim Yok

Tarih

2008

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

SPRINGER

Erişim Hakkı

info:eu-repo/semantics/closedAccess

Özet

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), an autosomal recessive renal tubular disorder is characterized by the impaired tubular reabsorption of magnesium and calcium in the thick ascending limb of the loop of Henle. This disease is caused by mutations in the claudin-16 gene (CLDN16), which encodes the tight junction protein, claudin-16. Claudin-16 belongs to the claudin family and regulates the paracellular transport of magnesium and calcium. Here, we report on three Turkish siblings with typical clinical features of FHHNC in association with the homozygous mutation Leu151Phe.

Açıklama

Anahtar Kelimeler

claudin-16, FHHNC, renal tubular disorder

Kaynak

PEDIATRIC NEPHROLOGY

WoS Q Değeri

Q2

Scopus Q Değeri

Q1

Cilt

23

Sayı

6

Künye