Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Japan.
Department of Nephrology and Rheumatology, Tokyo Metropolitan Children's Medical Center, Japan.
Intern Med. 2023 Jan 1;62(1):87-90. doi: 10.2169/internalmedicine.8707-21. Epub 2022 Jun 7.
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.
同患肾单位肾痨的同胞兄弟或姐妹有时表现出不同的临床病程，但原因尚不清楚。本文报道了一对非同卵双生双胞胎患肾单位肾痨的病例，他们具有不同的临床病程。哥哥在 17 岁时发展为终末期肾病，而他的妹妹则没有出现肾功能不全。在哥哥和妹妹分别在 14 岁和 22 岁时进行的肾活检显示，他们的肾小管间质性损伤严重。两人均存在 NPHP1 纯合缺失，伴有不同的与遗传性多囊肾病相关的杂合突变。由于同卵双生双胞胎暴露于相似的环境因素，遗传因素可能比环境因素更能影响他们的临床病程。
