Medullary cystic kidney disease

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Medullary cystic kidney disease
Classification and external resources
ICD-10 Q61.5
ICD-9 753.16
OMIM 174000 603860
DiseasesDB 29224
MedlinePlus 000465
eMedicine ped/1393

Medullary cystic kidney disease is an autosomal dominant kidney disorder characterized by cysts in both kidneys and tubulointerstitial sclerosis leading to end-stage renal disease. The kidney disease nephronophthisis is in the classification of this disorder. Importantly, cysts are found in the medullary collecting ducts, which results in a shrunken kidney, unlike that of polycystic kidney disease.

Medullary cystic kidney disease has an autosomal dominant pattern of inheritance.
  • MCKD1 has been associated with chromosome 1, but not a specific gene yet.[1] Research by Kirby A et al. suggest that mutations in the VNTR of the human mucin MUC1 are associated with MCKD1 [2]
  • MCKD2 has been associated with UMOD on chromosome 16.[3]

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  1. ^ Scolari F, Viola BF, Ghiggeri GM et al. (2003). "Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease". J. Nephrol. 16 (3): 321–8. PMID 12832729. 
  2. ^ Kirby A, Gnirke A, Jaffe DB et al. (2013). "Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing". Nat Genet 45 (3): 299–303. doi:10.1038/ng.2543. PMID 23396133. 
  3. ^ Hart TC, Gorry MC, Hart PS et al. (December 2002). "Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy". J. Med. Genet. 39 (12): 882–92. doi:10.1136/jmg.39.12.882. PMC 1757206. PMID 12471200.