Interstitial lung disease , nephrotic syndrome and integrin alpha-3 Mutation Q82.8

Last updated on: 15.01.2022

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History
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Has C et al. 2012

Definition
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Very rare (<10 patients described) autosomal recessive, very severe multisystem disease involving skin, kidneys, and lungs. Life-limiting is congenital interstitial lung disease with recurrent respiratory infections and congenital nephrotic syndrome (Okamoto T et al. 2021). Skin fragility usually takes a back seat to the severity of symptoms in this clinical picture.

Clinical features
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Homozygosity for a 1-bp deletion in the ITGA3 gene (605025.0001) was detected in an Italian boy with congenital interstitial lung disease, nephrotic syndrome, and mild epidermolysis bullosa who died of a lung infection at 7.5 months of age.

Analysis of the ITGA3 gene in two similarly affected unrelated girls revealed homozygosity for a splice site and a missense mutation (605025.0002 and 605025.0003). The results suggest that the mutation causes impaired post-translational processing of ITGA3 (Yalcin et al. 2015).

Other methods of examination
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Transmission electron microscopy shows a thin lamina densa discontinuous between hemidesmosomes.Keratin filaments, desmosomes, hemidesmosomes, and anchoring fibrils are described as normal.

Immunofluorescence mapping shows a focal disruption of the dermal-epidermal boundary with cleavage within the basement membrane.

Histology
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Skin cleavage occurs within the lamina lucida of the basement membrane. Evidence of subepidermal blisters (Has et al. 2012).

Progression/forecast
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The cases known so far were lethal within the first two years of life due to fatal lung involvement. Therapeutically, organ transplantation (kidney, lung) is the only life-prolonging option.

Literature
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  1. Has C et al (2012) Integrin alpha-3 mutations with kidney, lung, and skin disease. New Eng J Med 366: 1508-1514.
  2. Okamoto T et al (2021) Successful kidney transplantation in a patient with neonatal-onset ILNEB. Pediatr Transplant 25:e13971.
  3. Yalcin E G et al (2015) Crucial role of posttranslational modifications of integrin alpha-3 in interstitial lung disease and nephrotic syndrome. Hum Molec Genet 24: 3679-3688.

Incoming links (1)

ITGA3 Gene;

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Last updated on: 15.01.2022