Nobayashi Hiroki, Iida Tomomichi, Fujimaru Takuya, Mori Takayasu, Ito Yumi, Ueda Hiroyuki, Sohara Eisei, Uchida Shinichi, Aoyagi Ryuji, Yokoo Takashi
Division of Nephrology and Hypertension, Department of Internal Medicine, The Jikei University School of Medicine, 3-25-8 Nishi-Shimbashi, Minato-ku, Tokyo, 105-8461, Japan.
Division of Nephrology, Tachikawa General Hospital, Niigata, Japan.
CEN Case Rep. 2025 Apr;14(2):113-118. doi: 10.1007/s13730-024-00915-w. Epub 2024 Jul 16.
Autosomal-dominant tubulointerstitial kidney disease caused by UMOD (encoding uromodulin) mutation (ADTKD-UMOD) is a rare hereditary disease. A strong family history of hyperuricemia or gout and inherited kidney disease raises the suspicion of ADTKD-UMOD. Genetic testing can confirm the diagnosis without a kidney biopsy. However, when complicated by other diseases that can cause tubulointerstitial disease, renal biopsy is indispensable for the diagnosis and decisions on treatment strategy. We report the case of a 44-year-old woman referred for evaluation of kidney dysfunction. She had an attack of gout 1 month before referral and a family history of hyperuricemia. She was diagnosed with primary Sjogren's syndrome through an immune workup and ophthalmological examination. However, a kidney biopsy revealed histological features suggesting ADTKD rather than gouty kidney or tubulointerstitial nephritis associated with Sjogren's syndrome, and immunostaining revealed a characteristic staining pattern with UMOD. Comprehensive genetic testing of 93 genes responsible for polycystic kidney disease revealed a novel heterozygous missense variant (c.649 T > A:p. Cys217Ser) in UMOD, and the patient was diagnosed with ADTKD-UMOD. In this case, kidney biopsy contributed to the correct diagnosis of tubulointerstitial kidney disease. This case emphasizes the importance of suspecting ADTKD-UMOD based on family history and careful evaluation of kidney biopsy findings.
由UMOD（编码尿调节蛋白）突变引起的常染色体显性遗传性肾小管间质性肾病（ADTKD-UMOD）是一种罕见的遗传性疾病。高尿酸血症或痛风以及遗传性肾病的家族病史强烈提示可能患有ADTKD-UMOD。基因检测无需进行肾活检即可确诊。然而，当合并有其他可导致肾小管间质性疾病的疾病时，肾活检对于诊断及治疗策略的决策是必不可少的。我们报告了一例44岁女性因肾功能不全前来评估的病例。她在转诊前1个月发作过痛风，且有高尿酸血症家族史。通过免疫检查和眼科检查，她被诊断为原发性干燥综合征。然而，肾活检显示的组织学特征提示为ADTKD，而非痛风性肾病或与干燥综合征相关的肾小管间质性肾炎，免疫染色显示UMOD有特征性的染色模式。对93个与多囊肾病相关基因进行的全面基因检测发现，UMOD基因存在一个新的杂合错义变异（c.649 T＞A:p.Cys217Ser），该患者被诊断为ADTKD-UMOD。在此病例中，肾活检有助于正确诊断肾小管间质性肾病。该病例强调了基于家族病史怀疑ADTKD-UMOD以及仔细评估肾活检结果的重要性。
