Medullary cystic kidney disease
Medical condition / From Wikipedia, the free encyclopedia
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 4 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. 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]
Medullary cystic kidney disease | |
---|---|
Medullary cystic kidney disease has an autosomal dominant pattern of inheritance | |
Specialty | Medical genetics |
Symptoms | Polydipsia[1] |
Types | MCKD1 and MCKD2[2][3] |
Diagnostic method | Kidney biopsy, Kidney ultrasound, CBC[4] |
Medication | Currently no cure, Drink plenty of fluids, Salt supplement[4] |