ECTS2016 Poster Presentations Paediatric bone disease (14 abstracts)
Clinical features and targeted gene sequencing analysis of paediatric hypoparathyroidism
Yuepeng Li , Ou Wang , Tingting Quan , Xueying Chu , Weibo Xia , Mei Li , Yan Jiang , Xunwu Meng & Xiaoping Xing
Key Laboratory of Endocrinology of National Health and Family Planning Commission, Department of Endocrinology, PUMC Hospital, CAMS and PUMC, Beijing, China.
Objectives: For paediatric patients with hypoparathyroidism, genetic defects should be considered firstly. This study was to investigate the clinical features and analyse gene mutations of Chinese patients with child-onset hypoparathyroidism.
Subjects and methods: We enrolled 35 paediatric patients with hypoparathyroidism at our clinical centre between 1984 and 2014. Clinical characteristics were collected and Targeted next-generation sequencing (NGS) was performed to test ten related gene mutations, including AIRE, AP2S1, CASR, CLDN16, FAM111A, GATA3, GCM2, PTH, TBCE and TRPM6.
Results: The average age of onset was 8.7 years. There were 33 patients (94.3%) with tetany and 22 patients (62.9%) with seizures at the first visit. Before treatment, the average serum calcium and phosphorus were 1.65±0.34 mmol/l and 2.40±0.53 mmol/l, respectively. And the median PTH concentration was 3.0 pg/ml (range 1.0–9.8). Intracranial calcification was identified in 30 out of 31 patients (96.8%), nine in 11 patients who had made ophthalmologic consultation were diagnosed as cataract. And 11 patients had hypercalciuria. We identified 6 patients (17.1%) with gene defects, including four patients with deletion mutation of TBX1 and COMT gene, one patient with a novel GATA3 mutation (c.286delT; p.W96Gfs*99), and a known mutation of CASR gene in a family.
Conclusions: The current study suggests that it is necessary to monitoring the complications of hypoparathyroidism, such as hypercalciruia, renal damage and basal ganglia calcification. For paediatric patients, gene testing should be conducted to clarify the aetiology.
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Bone Abstracts
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