Chin Yun Ann, Zhao Yi, Tay Gerald, Sim Weiying, Chow Chun Yuen, Chandran Manju
Department of Endocrinology, Singapore General Hospital, Singapore.
Department of Clinical Translational Research, Singapore General Hospital, Singapore.
Case Rep Endocrinol. 2021 Apr 15;2021:9944552. doi: 10.1155/2021/9944552. eCollection 2021.
X-linked hypophosphatemia (XLH) is the most prevalent form of hereditary hypophosphatemic rickets associated with phosphate wasting. However, its diagnosis is often missed, resulting in patients presenting late in the course of the disease when complications such as tertiary hyperparathyroidism and renal failure have already set in. Phosphate and calcitriol replacement, both of which have undesirable consequences of their own, have historically been the main stay of therapy. We describe the case of a 57-year-old gentleman with tertiary hyperparathyroidism, who was mislabelled as having achondroplasia for many years before we made a diagnosis of XLH in him. His XLH was found to be due to a hereto unreported deletion of entire exon 14 with partial deletions of introns 13 and 14 of the PHEX gene. Perioperative management in him was fraught with surgical and medical difficulties including an operation that was technically complicated due to his multiple anatomical deformities. Our case also highlights the critical importance of timely recognition and accurate diagnosis of XLH, as well as the long-term multidisciplinary management that is needed for this disorder.
X连锁低磷血症（XLH）是与磷酸盐流失相关的最常见的遗传性低磷性佝偻病形式。然而，其诊断常常被漏诊，导致患者在疾病进程后期才就诊，此时诸如三发性甲状旁腺功能亢进和肾衰竭等并发症已经出现。磷酸盐和骨化三醇替代治疗，这两种治疗方法都有其自身不良后果，一直是历史上的主要治疗手段。我们描述了一名患有三发性甲状旁腺功能亢进的57岁男性病例，在我们诊断出他患有XLH之前，他被误诊为软骨发育不全多年。发现他的XLH是由于PHEX基因的整个外显子14缺失以及内含子13和14的部分缺失，此前未报道过这种情况。他的围手术期管理充满了手术和医疗困难，包括由于他的多种解剖畸形导致手术技术复杂。我们的病例还强调了及时识别和准确诊断XLH的至关重要性，以及对这种疾病所需的长期多学科管理。
