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Medullary cystic kidney disease (MCKD) is a progressive tubulointerstitial nephropathy leading to end-stage renal disease (ESRD) and need for dialysis or kidney transplantation. MCKD occurs in adulthood with a variable age of onset, ranging from 20 to 70 years within and between families., The manifestations of MCKD are highly variable and nonspecific.
MCKD belongs to a recently termed group of autosomal-dominant tubulointerstitial kidney diseases (ADTKDs) and is classified into two types according to the responsible genes: mucin 1 ( MUC1 ) gene for MCKD type 1 (MCKD1) and uromodulin ( UMOD ) gene for MCKD2.,,, These two types of MCKD and other ADTKDs are phenotypically similar, and genetic testing of pathogenic mutation(s) in responsible genes is needed to confirm a diagnosis.
Whereas the drug is intended for treatment of another disease, scientists believe it could also be used to treat MCKD.
MCKD is a rare condition in which small, fluid-filled sacs called cysts form in the centre of the kidneys.
Confirmation of "simple" MCKD warrants a repeat renal ultrasound at 12 to 24 months to confirm compensatory hypertrophy.
This very task has become much faster and easier in most cases, although there are exceptions, such as the MCKD1 gene for medullary cystic kidney disease (MCKD) type 1, which remains stubbornly elusive (Figure 1 shows schematically the morbid cystic kidney chromosome map).
(90,94) This finding, in combination with an absence of TCF2 (HNF1P) mutations, (83) places ADGCKD in the category of "uromodullin disorders," which also include autosomal dominant medullary cystic kidney disease (MCKD) types 1 and 2 (MCKD1, Mendelian Inheritance in Man [MIM] 174000; and MCKD2, MIM 603860, respectively) and familial juvenile hyperuricemic nephropathy (MIM 162000).
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