Medullary cystic kidney disease

Medullary cystic kidney disease
Medullary cystic kidney disease has an autosomal dominant pattern of inheritance
SpecialtyMedical genetics Edit this on Wikidata
SymptomsPolydipsia[1]
TypesMCKD1 and MCKD2[2][3]
Diagnostic methodKidney biopsy, Kidney ultrasound, CBC[4]
MedicationCurrently no cure, Drink plenty of fluids, Salt supplement[4]

Medullary cystic kidney disease (MCKD) is an autosomal dominant kidney disorder characterized by tubulointerstitial sclerosis leading to end-stage renal disease. Because the presence of cysts is neither an early nor a typical diagnostic feature of the disease, and because at least four different gene mutations may give rise to the condition, the name autosomal dominant tubulointerstitial kidney disease (ADTKD) has been proposed, to be appended with the underlying genetic variant for a particular individual.[5][6] Importantly, if cysts are found in the medullary collecting ducts they can result in a shrunken kidney, unlike that of polycystic kidney disease.[citation needed] There are two known forms of medullary cystic kidney disease, mucin-1 kidney disease 1 (MKD1) and mucin-2 kidney disease/uromodulin kidney disease (MKD2).[1] A third form of the disease occurs due to mutations in the gene encoding renin (ADTKD-REN), and has formerly been known as familial juvenile hyperuricemic nephropathy type 2.[7]

  1. ^ a b Cite error: The named reference emed was invoked but never defined (see the help page).
  2. ^ "OMIM Entry - # 174000 - MEDULLARY CYSTIC KIDNEY DISEASE 1; MCKD1". omim.org. Archived from the original on 12 December 2019. Retrieved 2 January 2018.
  3. ^ "OMIM Entry - # 603860 - MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2". omim.org. Archived from the original on 10 March 2017. Retrieved 2 January 2018.
  4. ^ a b Cite error: The named reference nih was invoked but never defined (see the help page).
  5. ^ Torres, Vincent E.; Harris, Peter C. (2016). "Cystic Diseases of the Kidney". In Skorecki, Karl; Chertow, Glenn M.; Marsden, Philip A; Taal, Maarten W.; Yu, Alan S.L. (eds.). Brenner and Rector's The Kidney (10th ed.). Philadelphia, PA: Elsevier. p. 1504. ISBN 978-1-4557-4836-5. Because the development of medullary cysts is neither an early nor a typical feature of the disease, many now consider the term medullary cystic kidney disease to be a misnomer and have proposed the term autosomal dominant tubulointerstitial kidney disease (ADTKD) to refer to a group of diseases caused by at least four genes: MUC1 encoding the mucoprotein mucin-1 (MUC-1) (chromosomal location 1q22); UMOD encoding uromodulin, also known as Tamm-Horsfall protein (chromosome 16p12.3); HNF1B encoding hepatocyte nuclear factor-1β (chromosome 17q12); and REN encoding renin (chromosome 1q32.1).
  6. ^ Eckardt, KU; Alper, SL; Antignac, C; Bleyer, AJ; Chauveau, D; Dahan, K; Deltas, C; Hosking, A; Kmoch, S; Rampoldi, L; Wiesener, M; Wolf, MT; Devuyst, O (October 2015). "Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report". Kidney International. 88 (4): 676–83. doi:10.1038/ki.2015.28. PMID 25738250. – via ScienceDirect (Subscription may be required or content may be available in libraries.)
  7. ^ Kmoch, Stanislav; Živná, Martina; Bleyer, Anthony (1993). "Autosomal Dominant Tubulointerstitial Kidney Disease, REN-Related (ADTKD-REN)". GeneReviews. University of Washington, Seattle. Archived from the original on October 28, 2020. Retrieved June 11, 2016.