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SynopsisCodesDifferential 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

Autosomal dominant tubulointerstitial kidney disease : Fatigue, Creatinine elevated, Hyperuricemia, Polyuria, Polydipsia, BP increased, RBC decreased
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.

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:01/11/2022
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Autosomal dominant tubulointerstitial kidney disease
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A medical illustration showing key findings of Autosomal dominant tubulointerstitial kidney disease : Fatigue, Creatinine elevated, Hyperuricemia, Polyuria, Polydipsia, BP increased, RBC decreased
Copyright © 2023 VisualDx®. All rights reserved.