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

Besci, Özge; Patel, Kashyap; Yıldız, Gizem; Tüfekçi, Özlem; Acınıklı, Kübra Yüksek; Abacı, Ayhan; Böber, Ece; Bayram, Meral Torun; Yılmaz, Şebnem; Demir, Korcan

doi:10.1007/s42000-022-00352-3

Cited by 3 publications

(1 citation statement)

References 27 publications

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“…1 Patients commonly with hepatosplenomegaly, heart anomalies, growth retardation, hyperglycemia, hemolytic anemia and hypogonadism. [2][3][4] The etiology of this disease is attributed to mutations within the SLC29A3 gene, encoding the human equilibrative nucleoside transporter 3 (hENT3), located on chromosome 10q22, either in a homozygous or compound heterozygous form. 5 These mutations likely impact nucleoside pools in the membranes of mitochondria and lysosomes, disrupting the homeostatic functions of these organelles, which are dependent on hENT3 substrates.…”

Section: Introductionmentioning

confidence: 99%

Cases with the H syndrome presenting with skin and bone findings

Kose,

Baskaya,

Kilic

2024

Aust J Dermatology

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BackgroundThe H syndrome is an autosomal recessive disease characterized by hyperpigmentation, hypertrichosis and sensorineural hearing loss.MethodsA mutation in the coding of the human equilibrative nucleoside transporter 3 (hENT3) within the SLC29A3 gene on chromosome 10q22 leads to the manifestation of this disease. In this report, we present two cases of H syndrome.ResultsThe first patient exhibits hyperpigmentation, hypogonadism, Type 1 diabetes mellitus, arthritis and osteoporosis. The second patient experiences hyperpigmentation, hypertrichosis, osteopenia and hypogonadism.ConclusionOur objective is to broaden the clinical spectrum of H syndrome, highlighting the involvement of arthritis, hyperinflammation and low bone mineral density in individuals with this disorder.

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Section: Introductionmentioning

confidence: 99%

Cases with the H syndrome presenting with skin and bone findings

Kose,

Baskaya,

Kilic

2024

Aust J Dermatology

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Multiple drugs

2022

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H syndrome treated with Tocilizumab: two case reports and literature review

et al. 2023

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H syndrome is a rare autosomal recessive genetic disorder characterized by the following clinical features: cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, hyperglycemia, fixed flexion contractures of the toe joints, and the proximal interphalangeal joints. In rare cases, autoinflammatory and lymphoproliferative manifestations have also been reported. This disorder is due to loss-of-function mutations in SLC29A3 gene, which encode the equilibrative nucleoside transporter ENT3. This deficiency leads to abnormal function and proliferation of histiocytes. H syndrome is part of the R-group of histiocytosis. We report two different cases, one was diagnosed in adulthood and the other in childhood. The first case reported is a 37-year-old woman suffering from H syndrome with an autoinflammatory systemic disease that begins in adulthood (fever and diffuse organ’s infiltration) and with cutaneous, articular, auditory, and endocrinological manifestations since childhood. The second case reported is a 2-year-old girl with autoinflammatory, endocrine, and cutaneous symptoms (fever, lymphadenopathy, organomegaly, growth delay, and cutaneous hyperpigmentation). Homozygous mutations in SLC29A3 confirmed the diagnosis of H syndrome in both cases. Each patient was treated with Tocilizumab with a significant improvement for lymphoproliferative, autoinflammatory, and cutaneous manifestations. Both cases were reported to show the multiple characteristics of this rare syndrome, which can be diagnosed either in childhood or in adulthood. In addition, an overview of the literature suggested Tocilizumab efficiency.

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

Cited by 3 publications

References 27 publications

Cases with the H syndrome presenting with skin and bone findings

Cases with the H syndrome presenting with skin and bone findings

Multiple drugs

H syndrome treated with Tocilizumab: two case reports and literature review

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