Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: The first four patients in Serbia
Introduction Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disease characterized by excessive renal magnesium and calcium wasting, bilateral nehrocalcinosis and progressive renal failure. This is the first report of FHHNC of four patients in...
Main Authors: | Peco-Antić Amira, Konrad Martin, Miloševski-Lomić Gordana, Dimitrijević Nikola |
---|---|
Format: | Article |
Language: | English |
Published: |
Serbian Medical Society
2010-01-01
|
Series: | Srpski Arhiv za Celokupno Lekarstvo |
Subjects: | |
Online Access: | http://www.doiserbia.nb.rs/img/doi/0370-8179/2010/0370-81791006351P.pdf |
Similar Items
-
Novel Variant in CLDN16: A Further Step in the Diagnosis of Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis—A Case Report
by: Gopal Narang, et al.
Published: (2021-06-01) -
Urinary Acidification Does Not Explain the Absence of Nephrocalcinosis in a Mouse Model of Familial Hypomagnesaemia with Hypercalciuria and Nephrocalcinosis (FHHNC)
by: Amr Al-Shebel, et al.
Published: (2024-02-01) -
Hypercalciuria caused by CYP24A1 mutation: Fourteen years of the patient’s follow-up
by: Peco-Antić Amira, et al.
Published: (2018-01-01) -
Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
by: Alejandro García‐Castaño, et al.
Published: (2020-11-01) -
Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: a case report
by: Jingru Lu, et al.
Published: (2018-07-01)