ミウラ　ケンイチロウ   MIURA Ken'ichirou   三浦　健一郎    所属   医学部 医学科（東京女子医科大学病院）    職種   教授
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	Early-onset kidney failure in a girl with autosomal dominant tubulointerstitial kidney disease due to a de novo UMOD variant.
掲載誌名	正式名：CEN case reports 略　 称：CEN Case Rep ISSNコード：21924449/21924449
掲載区分	国外
巻・号・頁	15(2),pp.46
著者・共著者	Shinya Tomori, Kenichiro Miura, Yoko Shirai, Taeko Hashimoto, Ichiro Hada, Ryota Kurayama, Naoya Morisada, Kandai Nozu, Motoshi Hattori
発行年月	2026/02
概要	Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by renal tubular and interstitial abnormalities and slow progressive loss of kidney function. Patients with ADTKD rarely progress to kidney failure in early childhood. A 7-year-old Japanese girl was admitted to the hospital due to afebrile seizures and was later diagnosed with Panayiotopoulos syndrome. Blood examinations showed that she had a serum creatinine level of 1.57 mg/dL (Cr-eGFR 28 mL/min/1.73 m²), consistent with chronic kidney disease stage 4. Ultrasonography showed bilateral small to normal-sized kidneys, with increased renal parenchymal echogenicity, poor corticomedullary differentiation, and small cysts. A panel exome sequencing targeting 187 genes identified a de novo pathogenic variant c.172G > T, p.Gly58Cys in the EGF-like domain 1 of the UMOD gene. Her parents did not possess this variant, leading to the diagnosis of a sporadic case of ADTKD-UMOD. Variants in the EGF-like domain 1 may lead to early progression to kidney failure. ADTKD-UMOD should be listed as a differential diagnosis of progressive kidney failure in early childhood, even in the absence of a family history.
DOI	10.1007/s13730-025-01081-3
PMID	41642419