Carpenter T O
Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
Pediatr Clin North Am. 1997 Apr;44(2):443-66. doi: 10.1016/s0031-3955(05)70485-5.
This article updates the practicing pediatrician's knowledge of the hypophophatemic disorders that may occur in children. The classic X-linked disorder is emphasized. Details of clinical manifestations, the wide spectrum of disease severity, and complications of the disorder in adults are reviewed. Recent research, new genetic findings, and speculations regarding pathophysiology are discussed. A strategy for approaching medical treatment of X-linked hypophosphatemic rickets is provided, together with complications of treatment and treatment after cessation of growth.
本文更新了执业儿科医生对儿童可能发生的低磷血症性疾病的认识。重点介绍了经典的X连锁疾病。综述了临床表现的细节、疾病严重程度的广泛范围以及该疾病在成人中的并发症。讨论了近期的研究、新的基因发现以及关于病理生理学的推测。提供了一种治疗X连锁低磷性佝偻病的策略，以及治疗的并发症和生长停止后的治疗方法。
