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Nephrology & Renal Medicine

Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD / UMOD)

ICD-10 Code
Q61.5_1

Genetic disorder (commonly UMOD mutation) leading to abnormal uromodulin protein folding and accumulation in the thick ascending limb. Causes early-onset hyperuricemia, severe gout in adolescence, and slowly progressive CKD. Normal urine sediment.

Clinical Presentation & Protocol

Patient Usually Complains Of

Patient presents for evaluation of progressive CKD and history of early-onset gout. Family history is significant for autosomal dominant inheritance pattern of renal insufficiency. Clinical presentation characterized by hyperuricemia, gouty arthritis, and bland urinary sediment. No history of hematuria, proteinuria, or nephrolithiasis.

Clinical Examination Findings

General: Patient is alert and oriented, in no acute distress. Vitals: BP stable, often elevated in later stages. Skin: No evidence of tophi or subcutaneous nodules. Musculoskeletal: Joints examined for signs of chronic gouty arthropathy; range of motion assessed. Edema: Peripheral edema absent unless advanced CKD stage.

Treatment Protocol

Management focuses on nephroprotection and gout control. Initiate Allopurinol or Febuxostat for hyperuricemia management. Monitor eGFR and serum creatinine periodically. Avoid nephrotoxic agents (NSAIDs). Consider ACE inhibitors or ARBs for hypertension management and proteinuria reduction if present. Genetic counseling recommended.

Detailed clinical guide coming soon.