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

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

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..

Medienart:	E-Artikel

Erscheinungsjahr:	2022
Erschienen:	2022

Enthalten in:	Zur Gesamtaufnahme - volume:21
Enthalten in:	Hormones - 21(2022), 3 vom: 14. März, Seite 501-506

Sprache:	Englisch

Beteiligte Personen:	Besci, Özge [VerfasserIn] Patel, Kashyap Amratlal [VerfasserIn] Yıldız, Gizem [VerfasserIn] Tüfekçi, Özlem [VerfasserIn] Acinikli, Kübra Yüksek [VerfasserIn] Erbaş, İbrahim Mert [VerfasserIn] Abacı, Ayhan [VerfasserIn] Böber, Ece [VerfasserIn] Bayram, Meral Torun [VerfasserIn] Yılmaz, Şebnem [VerfasserIn] Demir, Korcan [VerfasserIn]

Links:	Volltext [lizenzpflichtig]

Themen:	Anemia Intravenous immunoglobulin Monogenic diabetes Steroid Tocilizumab

Anmerkungen:	© Hellenic Endocrine Society 2022

doi:	10.1007/s42000-022-00352-3

funding:
Förderinstitution / Projekttitel:

PPN (Katalog-ID):	OLC2131990014

Internformat


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520			\|a 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.
650		4	\|a Monogenic diabetes
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Atypical comorbidities in a child considered to have type 1 diabetes led to the diagnosis of SLC29A3 spectrum disorder

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