Article
A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency.
Pediatric nephrology (Berlin, Germany) - 1 Nov 2010
Bogdanović Radovan, Draaken Markus, Toromanović Alma, Dordević Maja, Stajić Natasa, Ludwig Michael
Abstract excerpt
Dent disease is an X-linked recessive disorder affecting the proximal tubule and is characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis/nephrolithiasis with a variable number of features of Fanconi syndrome. It is most often associated with mutations in CLCN5, which encodes the endosomal electrogenic chloride/proton exchanger ClC-5. Renal acidification abnormalities are only...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.