Autosomal dominant tubulointerstitial kidney disease

Definition:

Autosomal-dominant tubulointerstitial kidney disease (ADTKD) is a broad term that encompasses a group of largely monosystemic disorders characterized by renal tubular and interstitial abnormalities, leading to slow progressive loss of kidney function requiring dialysis and kidney transplantation. The clinical manifestations of typical ADTKD appear to be confined to the kidney, whereas atypical type caused by mutations in HNF1B results in variable extrarenal manifestations.

References:

[1]. Andrew Kirby, et al. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet. 2013 Mar;45(3):299-303. [Content Brief]

[2]. Coralie Bingham, et al. Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. Kidney Int. 2003 May;63(5):1645-51. [Content Brief]

[3]. Kai-Uwe Eckardt, et al. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. Kidney Int. 2015 Oct;88(4):676-83. [Content Brief]

[4]. Martina Zivná, et al. Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet. 2009 Aug;85(2):204-13. [Content Brief]

[5]. Nikhita Ajit Bolar, et al. Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia. Am J Hum Genet. 2016 Jul 7;99(1):174-87. [Content Brief]

[6]. T C Hart, et al. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet. 2002 Dec;39(12):882-92. [Content Brief]

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