Different Clinical Courses of Nephronophthisis in Dizygotic Twins
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- Oki Yutaro
- Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan
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- Katsuma Ai
- Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan
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- Okabe Masahiro
- Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan
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- Watanabe Mao
- Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan
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- Sagasaki Makoto
- Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan
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- Takahashi Daisuke
- Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan
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- Kimura Ai
- Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan
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- Kato Junichiro
- Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan
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- Ueda Hiroyuki
- Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan
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- Hataya Hiroshi
- Department of Nephrology and Rheumatology, Tokyo Metropolitan Children's Medical Center, Japan
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- Fujimaru Takuya
- Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Japan
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- Mori Takayasu
- Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Japan
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- Sohara Eisei
- Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Japan
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- Uchida Shinichi
- Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Japan
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- Miyazaki Yoichi
- Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan
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- Yokoo Takashi
- Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan
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Abstract
<p>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. </p>
Journal
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- Internal Medicine
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Internal Medicine 62 (1), 87-90, 2023-01-01
The Japanese Society of Internal Medicine