ContentsSynopsisCodesDifferential Diagnosis & PitfallsBest TestsReferences
Autosomal dominant tubulointerstitial kidney disease
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Autosomal dominant tubulointerstitial kidney disease

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Contributors: Catherine Moore MD
Other Resources UpToDate PubMed

Synopsis

A rare autosomal dominant disorder characterized by progressive renal impairment with bland urine sediment. Medullary cysts may be seen on ultrasound but are more commonly not present.

For more information, see OMIM.

Codes

ICD10CM:
Q61.5 – Medullary cystic kidney

SNOMEDCT:
204957003 – Medullary cystic disease

Differential Diagnosis & Pitfalls

Differential diagnoses of cystic kidney disease and bland urinary sediment in childhood:
  • Renal dysplasia
  • Urinary tract obstruction
  • Autosomal dominant tubulointerstitial kidney disease
  • Early-onset autosomal dominant polycystic kidney disease
  • Autosomal recessive polycystic kidney disease
  • Uromodulin kidney disease
  • Autosomal dominant tubulointerstitial kidney disease due to REN mutation (previously known as familial juvenile hyperuricemic nephropathy type 2)
  • Mucin-1 kidney disease

Best Tests

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References

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Last Updated: 03/29/2017
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Autosomal dominant tubulointerstitial kidney disease
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Autosomal dominant tubulointerstitial kidney disease : Fatigue, Creatinine elevated, Hyperuricemia, Polyuria, Polydipsia, BP increased, RBC decreased
Copyright © 2018 VisualDx®. All rights reserved.