Clinical Research and Practice
Clinical follow-up and genetic analysis of six cases with hypophosphatasia
Liu Min, Zhao Yun, Liang Xuejun, Cao Bingyan, Su Chang, Chen Jiajia, Gong Chunxiu
Published 2021-03-02
Cite as Chin J Pediatr, 2021, 59(3): 218-222. DOI: 10.3760/cma.j.cn112140-20200918-00886
Abstract
ObjectiveTo analyze the clinical, genetic characteristics and follow-up data of Chinese patients with hypophosphatasia (HPP).
MethodsA retrospective analysis was conducted on six children with HPP admitted to the Department of Endocrinology, Genetics and Metabolism in Beijing Children′s Hospital from October 2010 to January 2019. Summarized the clinical and follow-up data of all six patients, as well as the pathogenic variants of five children.
ResultsThe serum alkaline phosphatase levels of all six children (five males and one female) were significantly reduced (2-49 U/L). The 6 patients aged from 2 months to 6 years and 4 months, 4 infantile HPP, 1 childhood HIP and 1 odonto HPP. The four patients with infantile HPP presented with anorexia, slow weight gain and hypercalcemia, whereas the one patient with childhood HPP and the other patient with odonto HPP had tooth loss. The patient with childhood HPP also manifested with motor dysfunction. Genetic testing was conducted for five patients and 4 unrelated Chinese families and revealed 10 variations in ALPL gene, including 7 missense variation, 1 insertion variation, 1 frameshift variation, 1 deletion variation.Of which 3 were novel (p.Y28C, p.268, F>L, p.A176V).One of the infantile patients lost follow-up and the other three deceased. The clinical conditions were much improved with medical intervention for patients with childhood, orodonto HPP.
ConclusionsWhile HPP patients with different ages of onset present with common features, the prognosis differ significantly. The prognosis is good for patients with childhood, orodonto HPP and poor for patients with infantile HPP. Genetic testing is the main method for definitive diagnosis.
Key words:
Hypophosphatasia; Genes; Alkaline phosphatase
Contributor Information
Liu Min
Department of Endocrinology, Genetics and Metabolism, Beijing Children′s Hospital, Capital Medical University, National Center for Children′s Health, Beijing 100045, China
Zhao Yun
Department of Child Health Care, Qingdao New Century Women′s and Children′s Hospital, Qingdao 266011, China
Liang Xuejun
Department of Endocrinology, Genetics and Metabolism, Beijing Children′s Hospital, Capital Medical University, National Center for Children′s Health, Beijing 100045, China
Cao Bingyan
Department of Endocrinology, Genetics and Metabolism, Beijing Children′s Hospital, Capital Medical University, National Center for Children′s Health, Beijing 100045, China
Su Chang
Department of Endocrinology, Genetics and Metabolism, Beijing Children′s Hospital, Capital Medical University, National Center for Children′s Health, Beijing 100045, China
Chen Jiajia
Department of Endocrinology, Genetics and Metabolism, Beijing Children′s Hospital, Capital Medical University, National Center for Children′s Health, Beijing 100045, China
Gong Chunxiu
Department of Endocrinology, Genetics and Metabolism, Beijing Children′s Hospital, Capital Medical University, National Center for Children′s Health, Beijing 100045, China
