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[Nephronophtisis].

Patrick Niaudet¹, Rémi Salomon

¹Service de néphrologie pédiatrique et Inserm U574, hôpital Necker-Enfants-Malades, 149, rue de Sèvres, 75743 Paris cedex 15, France. niaudet@necker.fr

Nephrologie & Therapeutique

|September 13, 2006

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Nephronophthisis is a genetic kidney disease causing renal failure. This tubulo-interstitial nephritis has varied forms and genetic causes, often affecting children and involving cilia proteins.

Area of Science:

Nephrology
Genetics
Pathology

Background:

Nephronophthisis is a chronic tubulo-interstitial nephritis.
It leads to end-stage renal failure.
It is genetically heterogeneous with distinct clinical forms.

Purpose of the Study:

To summarize the clinical and genetic heterogeneity of nephronophthisis.
To describe the different forms: juvenile, infantile, and adolescent.
To highlight the association with gene defects and extrarenal symptoms.

Main Methods:

Review of clinical and genetic data on nephronophthisis.
Classification of disease forms based on age of onset and progression.
Correlation of clinical phenotypes with specific gene mutations.

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Main Results:

Juvenile nephronophthisis: most common, autosomal recessive, renal failure before 15, urine concentration defect, normal kidney size, interstitial fibrosis.
Infantile nephronophthisis: autosomal recessive, cortical microcysts, renal failure before 5.
Adolescent nephronophthisis: less frequent, autosomal dominant (Medullary Cystic Disease), later renal failure, no extrarenal symptoms.

Conclusions:

Nephronophthisis presents diverse clinical and genetic profiles.
Gene defects often involve proteins localized to primary cilia.
Understanding genetic basis is crucial for diagnosis and management of this cystic kidney disease.