Internal medicine (Tokyo, Japan) · 2022
Different Clinical Courses of Nephronophthisis in Dizygotic Twins.
СтатьяНазвание и аннотация: Перевод в очереди
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Oki Yutaro, Katsuma Ai, Okabe Masahiro, Watanabe Mao, Sagasaki Makoto, Takahashi Daisuke, Kimura Ai, Kato Junichiro, Ueda Hiroyuki, Hataya Hiroshi, Fujimaru Takuya, Mori Takayasu, Sohara Eisei, Uchida Shinichi, Miyazaki Yoichi, Yokoo Takashi
Аннотация
Siblings with nephronophthisis occasionally show different clinical courses; however, the reasons for this remain unclear. We herein report cases of nephronophthisis in a pair of dizygotic twins with different clinical courses. The brother developed end-stage kidney disease at 17 years old; however, his sister did not show kidney insufficiency. Kidney biopsies revealed severe tubulointerstitial damage at 14 and 22 years old in the brother and sister, respectively. Both had a homozygous NPHP1 deletion with different heterozygous mutations related to hereditary cystic kidney disease. Since the dizygotic twins were exposed to similar environmental factors, genetic factors may have influenced their clinical course more strongly than environmental factors.