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Nephronophthisis
Other Resources UpToDate PubMed

Nephronophthisis

Contributors: Sanuja Bose BS, BA, Catherine Moore MD, Michael W. Winter MD
Other Resources UpToDate PubMed

Synopsis

Nephronophthisis (NPHP) is an autosomal recessive tubulointerstitial disease with identified mutations in a number of genes involved with ciliary, basal body, and centrosome function. Affected individuals manifest a progressive tubulointerstitial nephritis that typically progresses to end-stage renal disease in childhood. This is the most common genetic cause of chronic kidney disease in children.

Three clinical subtypes exist: infantile NPHP, juvenile NPHP, and adolescent / adult NPHP. Juvenile NPHP, or NPHP type 1, is the most common, resulting in end-stage renal disease (ESDR) at a mean age of 13 years. Clinical manifestations include polyuria, polydipsia with regular fluid intake, secondary enuresis, impaired sodium reabsorption, chronic kidney disease (along with possible severe anemia and growth retardation), and normal blood pressure. Adolescent / adult NPHP presents similarly to juvenile NPHP, with ESRD at a mean age of 19 years.

Infantile NPHP, or NPHP type 2, is very rare, with ERSD onset prior to age 4. Other clinical manifestations include oligohydramnios sequence in utero (look for limb contractures, pulmonary hypoplasia, facial dysmorphisms) and early severe hypertension.

Codes

ICD10CM:
Q61.5 – Medullary cystic kidney

SNOMEDCT:
204958008 – Nephronophthisis

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Differential diagnoses of cystic kidney disease and bland urinary sediment in childhood:

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:01/31/2019
Last Updated:01/20/2022
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Nephronophthisis
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A medical illustration showing key findings of Nephronophthisis : Nystagmus, Polyuria, Polydipsia, Generalized weakness, RBC decreased, Na decreased
Copyright © 2022 VisualDx®. All rights reserved.