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Review
. 2022 Sep;21(3):501-506.
doi: 10.1007/s42000-022-00352-3. Epub 2022 Mar 14.

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

Özge Besci  1 , Kashyap Amratlal Patel  2 , Gizem Yıldız  3 , Özlem Tüfekçi  4 , Kübra Yüksek Acinikli  1 , İbrahim Mert Erbaş  1 , Ayhan Abacı  1 , Ece Böber  1 , Meral Torun Bayram  3 , Şebnem Yılmaz  4 , Korcan Demir  5
Affiliations
Review

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

Özge Besci et al. Hormones (Athens). 2022 Sep.

Abstract

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.

Keywords: Anemia; Intravenous immunoglobulin; Monogenic diabetes; Steroid; Tocilizumab.

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Conflict of interest statement

Competing interests

The authors declare no conflict of interest. The Wellcome Trust had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.

Figures

Figure 1
Figure 1. Clinical image of the patient at the age of 12.5 years.
a, b. Frontal and dorsal view, arrowhead: cafe-au-lait spot. c, d, e. Clinodactyly and flat feet deformity.
Figure 2
Figure 2
Timeline of the diagnosis and treatments. 1Henoch-Schoenlein purpura, 2Pure red cell aplasia 3Within 2 months, 4 episodes of admittance
See this image and copyright information in PMC

References

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