Autosomal dominant tubulointerstitial kidney disease：a case report with literature review

doi:10.3877/cma.j.issn.2095-3216.2025.01.010

Chinese Journal of Kidney Disease Investigation(Electronic Edition) ›› 2025, Vol. 14 ›› Issue (01): 57-59. doi: 10.3877/cma.j.issn.2095-3216.2025.01.010

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Autosomal dominant tubulointerstitial kidney disease：a case report with literature review

Kaihua Bao, Xiaolong Wang, Jie Wu^†(), Pu Chen, Yuansheng Xie, Guangyan Cai

Received:2023-12-01 Online:2025-02-28 Published:2025-03-14
Contact: Jie Wu

Abstract

Kaihua Bao, Xiaolong Wang, Jie Wu, Pu Chen, Yuansheng Xie, Guangyan Cai. Autosomal dominant tubulointerstitial kidney disease：a case report with literature review[J]. Chinese Journal of Kidney Disease Investigation(Electronic Edition), 2025, 14(01): 57-59.

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References 16

［1］	Hart TC， Gorry MC， Hart PS， et al.Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy ［J］.J Med Genet，2002， 39（12）： 882-892.
［2］	石红光，赵学智.尿调节素相关肾病［J］.中华肾脏病杂志，2013， 29（7）： 542-546.
［3］	Wei X， Xu R， Yang Z， et al.Novel uromodulin mutation in familial juvenile hyperuricemic nephropathy ［J］.Am J Nephrol，2012， 36（2）： 114-120.
［4］	Kaminska-Pajak KA， Dyga K， Adamczyk P， et al.Familial juvenile hyperuricemic nephropathy as rare cause of dialysisdependent chronic kidney disease-a series of cases in two families［J］.Ren Fail， 2016， 38（10）： 1759-1762.
［5］	Salgueiro G， Beltran LM， Torres RJ， et al.Fenofibrate increases serum creatinine in a patient with familial nephropathy associated to hyperuricemia ［J］.Nucleosides Nucleotides Nucleic Acids，2014， 33（4-6）： 181-184.
［6］	Bleyer AJ， Kidd K， Živná M， et al.Autosomal dominant tubulointerstitial kidney disease ［J］.Adv Chronic Kidney Dis，2017， 24（2）： 86-93.
［7］	Duncan H， Dixon AS.Gout， familial hypericaemia， and renal disease ［J］.Q J Med， 1960， 29： 127-135.
［8］	Lhotta K， Piret SE， Kpamar R， et al.Epidemiology of uromodulin-associated kidney disease-results from a nation-wide survey ［J］.Nephron Extra， 2012， 2（1）： 147-158.
［9］	Bleyer AJ， Hart PS， Kmoch S.Hereditary interstitial kidney disease ［J］.Semin Nephrol， 2010， 30（4）： 366-373.
［10］	Bleyer AJ， Hart TC， Willingham MC， et al.Clinicopathologic findings in medullary cystic kidney disease type 2 ［J］.Pediatr Nephrol， 2005， 20（6）： 824-827.
［11］	Pirson Y， Loutc G， Cosyns JP， et al.Autosomal-dominant chronic interstitial nephritis with early hyperuricemia ［J］.Adv Nephrol Necker Hosp， 2000， 30： 357-369.
［12］	Fairbanks LD， Cameron JS， Venkat-Raman G， et al.Early treatment with allopurinol in familial juvenile hyerpuricemic nephropathy （FJHN） ameliorates the long-term progression of renal disease ［J］.QJM， 2002， 95（9）： 597-607.
［13］	Hamada T， Ichida K， Hosoyamada M， et al.Uricosuric action of losartan via the inhibition of urate transporter I （URAT 1） in hypertensive patients ［J］.Am J Hypertens， 2008， 21（10）：1157-1162.
［14］	Kudo E， Kamatani N， Tezuka O， et al.Familial juvenile hyperuricemic nephropathy： detection of mutations in the uromodulin gene in five Japanese families ［J］.Kidney Int，2004， 65（5）： 1589-1597.
［15］	Williams SE， Reed AAC， Galvanovskis J， et al.Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum ［J］.Hum Mol Genet， 2009， 18（16）：2963-2974.
［16］	黄岩龙，黄海长，王文堂，等.家族性青少年高尿酸血症肾病家系患者尿调节素编码基因突变位点研究［J/OL］.中华肾病研究电子杂志， 2015， 4（2）： 28-31.

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