Article
Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes.
Clinical and experimental nephrology - 1 Feb 2022
Ishiko Shinya, Morisada Naoya, Kondo Atsushi, Nagai Sadayuki, Aoto Yuya, Okada Eri, Rossanti Rini, Sakakibara Nana, Nagano China, Horinouchi Tomoko, Yamamura Tomohiko, Ninchoji Takeshi, Kaito Hiroshi, Hamada Riku, Shima Yuko, Nakanishi Koichi, Matsuo Masafumi, Iijima Kazumoto, Nozu Kandai
Abstract excerpt
BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 gene. The clinical spectrum is often more variable than previously considered. We aimed to analyze the clinical features of genetically diagnosed ARPKD in the Japanese population. METHODS: We conducted a genetic analysis of patients with clinically diagnosed or suspected ARPKD in Japan. Moreover, we performed a...
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