Marik Binata, Bagga Arvind, Sinha Aditi, Hari Pankaj, Sharma Arundhati
Division of Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India.
Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India.
J Pediatr Genet. 2018 Jun;7(2):47-59. doi: 10.1055/s-0038-1624577. Epub 2018 Jan 28.
Refractory rickets is a genetic disorder that cannot be treated by vitamin D supplementation and adequate dietary calcium and phosphorus. Hereditary hypophosphatemic rickets is one of the major forms of refractory rickets in Indian children and caused due to mutations in the , , , , and genes. This is the first study in India on a large number of patients reporting on mutational screening of the gene. Direct sequencing in 37 patients with refractory rickets revealed eight mutations in 13 patients of which 1 was nonsense, 2 were deletions, 1 was a deletion-insertion, and 4 were missense mutations. Of these mutations, four (c.566_567 delAG, c.651_654delACAT, c.1337delinsAATAA, and c.2048T > A) were novel mutations. This article discusses the mutations in Indian patients, collates information on the genetic causes of refractory rickets, and emphasizes the significance of genetic testing for precise diagnosis, timely treatment, and management of the condition, especially in developing countries.
难治性佝偻病是一种遗传性疾病，不能通过补充维生素D以及充足的膳食钙和磷来治疗。遗传性低磷性佝偻病是印度儿童难治性佝偻病的主要形式之一，由 、 、 、 和 基因的突变引起。这是印度第一项针对大量患者进行 基因变异筛查的研究。对37例难治性佝偻病患者进行直接测序发现，13例患者中有8个突变，其中1个为无义突变，2个为缺失突变，1个为缺失插入突变，4个为错义突变。在这些突变中，有4个（c.566_567 delAG、c.651_654delACAT、c.1337delinsAATAA和c.2048T > A）是新的突变。本文讨论了印度患者的突变情况，整理了难治性佝偻病遗传病因的信息，并强调了基因检测对于精确诊断、及时治疗和管理该病的重要性，尤其是在发展中国家。
