ArticlePediatric nephrology (Berlin, Germany)2021
Glomerular involvement in children with H syndrome.
Article in Pediatric nephrology (Berlin, Germany), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- Rheumatological manifestations of H syndrome.Reumatologia · 2024Review
- The SLC29A3 variant, neutrophilic dermatosis, and hyperferritinemia imitate systemic juvenile idiopathic arthritis in a Saudi child: a case report.Journal of rheumatic diseases · 2023Article
- Atypical comorbidities in a child considered to have type 1 diabetes led to the diagnosis of SLC29A3 spectrum disorder.Hormones (Athens, Greece) · 2022Review
- Pseudo-Meigs' Syndrome in Tunisian H Syndrome Female Patient: First Case Reported.The application of clinical genetics · 2021Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundH syndrome is a multisystem inflammatory disease caused by mutations in the SLC29A3 gene (OMIM #602782). The protein product, hENT3, is a nucleoside transporter essential for DNA salvage synthesis. Clinical manifestations are hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, short stature, skeletal deformities, and diabetes mellitus. Laboratory findings are consistent with inflammatory processes. Structural kidney anomalies have been described in 6% of patients. CASE REPORTS: Three family members with genetically diagnosed H syndrome (c.1279G>A, p.Gly427Ser). Two of them presented with hypoalbuminemia and nephrotic range proteinuria. Kidney ultrasound was normal. Kidney biopsy performed in one patient presenting with generalized peripheral pitting edema revealed membranous nephropathy. Different treatments including ACE inhibitors, corticosteroids, and immunomodulatory agents failed to improve the clinical outcome.
conclusionsGeneralized peripheral pitting edema and glomerulopathy broaden the clinical spectrum of H syndrome. Periodic bloodwork and urinalysis are recommended.
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