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Different Clinical Courses of Nephronophthisis in Dizygotic Twins.
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.
Affiliation
  • Oki Y; Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan.
  • Katsuma A; Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan.
  • Okabe M; Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan.
  • Watanabe M; Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan.
  • Sagasaki M; Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan.
  • Takahashi D; Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan.
  • Kimura A; Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan.
  • Kato J; Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan.
  • Ueda H; Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan.
  • Hataya H; Department of Nephrology and Rheumatology, Tokyo Metropolitan Children's Medical Center, Japan.
  • Fujimaru T; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Japan.
  • Mori T; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Japan.
  • Sohara E; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Japan.
  • Uchida S; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Japan.
  • Miyazaki Y; Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan.
  • Yokoo T; Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan.
Intern Med ; 62(1): 87-90, 2023 Jan 01.
Article in En | MEDLINE | ID: mdl-35676033
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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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Kidney Diseases, Cystic / Polycystic Kidney Diseases Limits: Adolescent / Adult / Female / Humans / Male Language: En Journal: Intern Med Journal subject: MEDICINA INTERNA Year: 2023 Document type: Article Affiliation country: Japan

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Kidney Diseases, Cystic / Polycystic Kidney Diseases Limits: Adolescent / Adult / Female / Humans / Male Language: En Journal: Intern Med Journal subject: MEDICINA INTERNA Year: 2023 Document type: Article Affiliation country: Japan