• Internal medicine · Jan 2023

    Different Clinical Courses of Nephronophthisis in Dizygotic Twins.

    • Yutaro Oki, Ai Katsuma, Masahiro Okabe, Mao Watanabe, Makoto Sagasaki, Daisuke Takahashi, Ai Kimura, Junichiro Kato, Hiroyuki Ueda, Hiroshi Hataya, Takuya Fujimaru, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Yoichi Miyazaki, and Takashi Yokoo.
    • Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan.
    • Intern. Med. 2023 Jan 1; 62 (1): 879087-90.

    AbstractSiblings 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.

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