Atypical comorbidities in a child considered to have type 1 diabetes led to the diagnosis of SLC29A3 spectrum disorder

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Besci Ö., Patel K. A., Yıldız G., Tüfekçi Ö., Yüksek Acinikli K., Erbaş İ. M., ...Daha Fazla

HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM, cilt.21, sa.3, ss.501-506, 2022 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 21 Sayı: 3
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1007/s42000-022-00352-3
  • Dergi Adı: HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.501-506
  • Anahtar Kelimeler: Monogenic diabetes, Anemia, Steroid, Tocilizumab, Intravenous immunoglobulin, PIGMENTED HYPERTRICHOTIC DERMATOSIS, H SYNDROME, GENETIC RISK, MUTATIONS, MELLITUS
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Introduction SLC29A3 spectrum disorder is an autosomal, recessively inherited, autoinflammatory, multisystem disorder characterized by distinctive cutaneous features, including hyperpigmentation or hypertrichosis, hepatosplenomegaly, hearing loss, cardiac anomalies, hypogonadism, short stature, and insulin-dependent diabetes. Case presentation Herein, we report a 6-year-old boy who presented with features resembling type 1 diabetes mellitus, but his clinical course was complicated by IgA nephropathy, pure red cell aplasia, and recurrent febrile episodes. The patient was tested for the presence of pathogenic variants in 53 genes related to monogenic diabetes and found to be compound heterozygous for two SLC29A3 pathogenic variants (p. Arg386Gln and p. Leu298fs). Conclusion This case demonstrated that SLC29A3 spectrum disorder should be included in the differential diagnosis of diabetes with atypical comorbidities, even when the distinctive dermatological hallmarks of SLC29A3 spectrum disorder are entirely absent.