medullary cystic disease

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medullary cystic disease

Familial juvenile nephrophthisis, Senior-Loken syndrome Nephrology A group of AD and, less commonly AR, renal diseases characterized by renal cysts located at the corticomedullary junction in a background of scarring; MCD presents as functional tubular defects and Fanconi syndrome associated with azotemia, uremia and high-output renal failure 3-5 yrs after onset Clinical Retarded growth, renal osteodystrophy, tapetoretinal degeneration Lab Salt wasting, ↓ Na+, acidosis with hyperchloremia

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Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region.

Medullary cystic kidney disease is an autosomal dominant condition with age-dependent penetrance than can lead to ESRD at any point from the third to the seventh decade of life.

Cystic diseases of the kidney: molecular biology and genetics

Background: Medullary cystic kidney disease (MCKD) is clinically indistinguishable from several other autosomal-dominant renal diseases; thus, molecular genetic testing is needed to establish a definitive diagnosis.

Medullary cystic kidney disease (MCKD) is a progressive tubulointerstitial nephropathy leading to end-stage renal disease (ESRD) and need for dialysis or kidney transplantation.[1] MCKD occurs in adulthood with a variable age of onset, ranging from 20 to 70 years within and between families.[2],[3] The manifestations of MCKD are highly variable and nonspecific.

Genetic Testing of the mucin 1 gene-Variable Number Tandem Repeat Single Cytosine Insertion Mutation in a Chinese Family with Medullary Cystic Kidney Disease

Multiple names have been proposed for this group of disorders, including medullary cystic kidney disease, familial juvenile hyperuricemic nephropathy, and uromodulin associated kidney disease.

Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease