Ozlu Can, Yesiltepe Mutlu Gul, Hatun Sukru
Koc University School of Medicine, Istanbul, Turkey.
Koc University School of Medicine, Istanbul 34010, Turkey.
J Pediatr Endocrinol Metab. 2019 Jan 28;32(1):89-93. doi: 10.1515/jpem-2018-0380.
Background H syndrome ([OMIM] 602782) is an autosomal recessive disorder with systemic manifestations and characteristic skin lesions, caused by mutations of the SLC29A3 gene. Short stature and diabetes mellitus are the major endocrine problems related to H syndrome, however, clear data from clinical follow-up of H syndrome patients is lacking in the literature. Case presentation Here, we present follow-up of a Turkish girl diagnosed with H syndrome at the age of 10 with a homozygous 310(c.933T>A, p.C310X) early stop codon mutation on exon 6 of the SLC29A3 gene. She had severe short stature non-responsive to growth hormone (GH) treatment and gluten-free diet despite low GH levels and celiac antibody positivity. She developed insulin dependent diabetes mellitus (IDDM) symptoms 6 years after the initial diagnosis. Conclusions H syndrome patients can develop IDDM years after characteristic symptoms. Short stature in H syndrome patients may not respond to GH replacement or gluten-free diet alone.
H综合征（[在线人类孟德尔遗传数据库编号]602782）是一种常染色体隐性疾病，具有全身症状和特征性皮肤损害，由SLC29A3基因突变引起。身材矮小和糖尿病是与H综合征相关的主要内分泌问题，然而，文献中缺乏H综合征患者临床随访的明确数据。病例报告：在此，我们报告一名土耳其女孩的随访情况，该女孩10岁时被诊断为H综合征，其SLC29A3基因第6外显子存在纯合310（c.933T>A，p.C310X）早期终止密码子突变。尽管生长激素水平较低且乳糜泻抗体呈阳性，但她身材严重矮小，对生长激素治疗和无麸质饮食均无反应。初次诊断6年后，她出现了胰岛素依赖型糖尿病（IDDM）症状。结论：H综合征患者在出现特征性症状数年之后可能会发展为IDDM。H综合征患者的身材矮小可能对生长激素替代治疗或单独的无麸质饮食无反应。
