Article
End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome.
Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy - 1 Jun 2016
Battelino Nina, Writzl Karin, Bratanič Nevenka, Irving Melita D, Novljan Gregor
Abstract excerpt
Hajdu-Cheney syndrome (HJCYS) is a rare, autosomal dominant, skeletal disorder caused by mutations in the NOTCH2 signaling pathway for which genetic testing has recently become available. Renal abnormalities are associated in at least 10% of cases. We present an 8-year-old Caucasian boy, born with multiple dysmorphic features consistent with HJCYS. Imaging of the urinary tract revealed bilateral cystic dysplastic...
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