medullary cystic kidney diseases
Synopsis
medullary cysts (medullary polycystic kidneys)
small kidneys
cortical atrophy (thin renal cortices)
prominent glomerular hyalinization
numerous corticomedullary cysts and intramedullary cysts lined by low cuboidal epithelium
increase in medullary connective tissue
Classification
precaliceal canalicular ectasia (medullary sponge kidney)
medullary cystic kidney disease (MCKD)
- autosomal dominant medullary cystic kidney disease type 1 (ADMCKD1 or MCKD1) (1q21) (MIM.174000)
- autosomal dominant medullary cystic kidney disease type 2 (ADMCKD2 or MCKD2) (MIM.603860).
- MCKD2 is caused by mutation in the UMOD gene at 16p13.11-p12.3 encoding uromodulin (MIM.191845) and is allelic to familial juvenile hyperuricemic nephropathy (MIM.162000).
- medullary cystic kidney disease 2 (MCKD2) is an autosomal dominant disease that is caused by mutations in uromodulin (UMOD), the expression of which has so far not been seen in cilia, basal bodies or centrosomes.
- medullary cystic disease, childood type, autosomal recessive (familial juvenile nephronophtisis complex)
- juvenile nephronophtisis
- Joubert syndrome
- Senior-Loken syndrome
- medullary cystic disease, adulthood type, autosomal dominant
- medullary cystic disease, with tapetoretinal degeneration (renal-retinal dysplasia syndrome)
See also
renal cysts
- renal medullary cysts
fetal medullary cystic kidney disease (congenital MCKD)
References
Saunier S, Salomon R, Antignac C. Nephronophthisis. Curr Opin Genet Dev. 2005 Jun;15(3):324-31. PMID: 15917209
Hildebrandt F, Omram H. Related New insights: nephronophthisis-medullary cystic kidney disease. Pediatr Nephrol. 2001 Feb;16(2):168-76. PMID: 11261687
Hildebrandt F, Otto E. Molecular genetics of nephronophthisis and medullary cystic kidney disease. J Am Soc Nephrol. 2000 Sep;11(9):1753-61. PMID: 10966501