Different Clinical Courses of Nephronophthisis in Dizygotic Twins |
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| Authors: | 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 Takashi Yokoo |
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| Affiliation: | 1.Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan; 2.Department of Nephrology and Rheumatology, Tokyo Metropolitan Children''s Medical Center, Japan; 3.Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Japan |
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| Abstract: | 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. |
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| Keywords: | nephronophthisis dizygotic twins NPHP1 gene mutation chronic kidney disease |
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