Article
Atypical phenotype of type I Bartter syndrome accompanied by focal segmental glomerulosclerosis.
Pediatric nephrology (Berlin, Germany) - 1 Feb 2009
Yamazaki Hajime, Nozu Kandai, Narita Ichiei, Nagata Michio, Nozu Yoshimi, Fu Xue Jun, Matsuo Masafumi, Iijima Kazumoto, Gejyo Fumitake
Abstract excerpt
Type I Bartter syndrome (BS) is caused by mutations of the Na-K-2Cl cotransporter (NKCC2)-encoding SLC12A1 gene. The clinical phenotype of this severe form of BS is characterized by polyhydramnios, premature delivery, failure to thrive, and nephrocalcinosis, and the diagnosis is usually made during the antenatal-neonatal period. This report concerns a 29-year-old Japanese man with atypical type I BS due to a...
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