About Medullary Cystic Kidney Disease
Medullary cystic kidney disease type 2 (now classified as autosomal dominant tubulointerstitial kidney disease-UMOD) is caused by mutations in UMOD encoding uromodulin (Tamm-Horsfall protein), leading to abnormal protein accumulation in tubular cells, progressive interstitial fibrosis, and slowly progressive renal failure. Medullary cysts are an inconstant finding and may not be visible on routine imaging, making UMOD genetic testing essential for diagnosis. Hyperuricaemia and gout are characteristic early features that may precede renal impairment by years.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Medullary Cystic Kidney Disease trials.
UMOD mutation confirmation is essential since medullary cysts may be absent; genetic testing should precede renal biopsy as histological findings are non-specific.
Serum uric acid levels and gout history are characteristic early markers; document the timeline of gout onset relative to renal impairment as this aids diagnosis and trial stratification.
Rate of eGFR decline over several years is the most critical eligibility variable for trials targeting disease progression; compile annual creatinine records from your GP or hospital.
Patient Resources
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