Autosomal Recessive Adolescent Syndromic Nephronophthisis Caused by a Novel Compound Heterozygous Pathogenic Variant

Oyintayo Ajiboye; Jaime E. Vengoechea; Ritu Gupta; Koba Lomashvili

doi:10.12659/AJCR.941413

22 November 2023 : Case report USA

Autosomal Recessive Adolescent Syndromic Nephronophthisis Caused by a Novel Compound Heterozygous Pathogenic Variant

Rare disease

Oyintayo Ajiboye

^1EF*, Jaime E. Vengoechea

^2E, Ritu Gupta^3BE, Koba Lomashvili^1E

DOI: 10.12659/AJCR.941413

Am J Case Rep 2023; 24:e941413

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Figure 1. Kidney biopsy with marked interstitial fibrosis and tubular atrophy (IFTA) with areas of chronic interstitial inflammation (hematoxylin-eosin stain).

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Autosomal Recessive Adolescent Syndromic Nephronophthisis Caused by a Novel Compound Heterozygous Pathogenic Variant

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