Types of autosomal dominant tubulointerstitial kidney disease (medullary cystic kidney disease)

Characteristic	ADTKD due to UMOD mutations (ADTKD-UMOD)	ADTKD due to REN mutations (ADTKD-REN)	ADTKD due to MUC1 mutations (ADTKD-MUC1)
Inheritance	Autosomal dominant	Autosomal dominant	Autosomal dominant
Urinalysis results	Bland without protein	Bland without protein	Bland without protein
Renal ultrasound	Normal or small kidneys, occasional cysts	Normal or small kidneys, occasional cysts	Normal or small kidneys, occasional cysts
Age of ESKD (years)	20 to 70	40 to 80	20 to 80
Kidney biopsy	Interstitial fibrosis, nondiagnostic	Interstitial fibrosis, nondiagnostic	Interstitial fibrosis, nondiagnostic
Definitive diagnosis	Genetic analysis	Genetic analysis	Genetic analysis
Associated findings	Many family members with gout, some in the teenage years	Low or low-normal blood pressure, hyperuricemia, anemia in childhood, mild hyperkalemia	No associated findings
Treatment	No specific treatment; allopurinol for gout	High-sodium diet or fludrocortisone	No specific treatment
Frequency	Rare	Very rare	Rare
Other names	Uromodulin kidney disease (UKD),* medullary cystic kidney disease type 2 (MCKD2), familial juvenile hyperuricemic nephropathy (FJHN)	Familial juvenile hyperuricemic nephropathy type 2 (FJHN2)	Mucin-1 kidney disease (MKD),* medullary cystic kidney disease type 1 (MCKD1)

* Preferred abbreviated name.

ADTKD: autosomal dominant tubulointerstitial kidney disease; ESKD: end-stage kidney disease.

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