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Condition report · Urological

ADTKD (Tubulointerstitial Kidney Disease)

A group of dominantly inherited conditions that cause slowly progressive kidney scarring with few changes in the urine, often alongside gout or high uric acid. It is an under-recognized cause of chronic kidney disease running in families.

A condition report looks for rare variants known to cause the conditions it covers.

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The 2 conditions we analyse

Familial Juvenile Hyperuricemic Nephropathy

Autosomal dominant

A dominantly inherited tubulointerstitial kidney disease, most often caused by UMOD variants (and also REN or SEC61A1), with high uric acid, early gout and gradual loss of kidney function.

What a diagnosis changes

Knowing supports kidney function monitoring, gout treatment and careful evaluation of related living kidney donors; the REN form may respond to fludrocortisone.

Genes analysed

Also known as

familial juvenile gouty nephropathy; familial nephropathy associated with hyperuricemia; familial nephropathy with gout; FJHN; gouty nephropathy, familial; juvenile gout; juvenile gouty nephropathy; tubulointerstitial kidney disease

Includes 7 related subtypes ↓
  • familial juvenile hyperuricemic nephropathy type 1
  • familial juvenile hyperuricemic nephropathy type 2
  • hyperuricemic nephropathy, familial juvenile type 3
  • hyperuricemic nephropathy, familial juvenile type 4
  • renal cysts and diabetes syndrome
  • tubulointerstitial kidney disease, autosomal dominant 6
  • tubulointerstitial kidney disease, autosomal dominant, 2
MONDO:0000608

Autosomal Dominant Medullary Cystic Kidney Disease

Autosomal dominant

A dominantly inherited tubulointerstitial kidney disease, including the MUC1 form, that leads to slowly progressive kidney failure in adulthood.

What a diagnosis changes

Knowing supports kidney function monitoring and careful evaluation of related living kidney donors.

Genes analysed

Also known as

ADTKD; autosomal dominant interstitial kidney disease; MCKD; medullary cystic disease; medullary cystic kidney disease

Includes 2 related subtypes ↓
  • familial juvenile hyperuricemic nephropathy type 1
  • tubulointerstitial kidney disease, autosomal dominant, 2
MONDO:0008264Orphanet 34149MedGen 1377523

Limitations

  • The most common MUC1 variant lies in a short, highly repetitive and GC-rich stretch of DNA that standard short-read whole genome sequencing cannot reliably read. A negative result does not rule out MUC1-related disease; a specialized assay or long-read sequencing is needed.

Other urological conditions

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