Chong Pui Lin, Meeking Darryl R
Academic Department of Diabetes and Endocrinology, Portsmouth Hospitals NHS Trust, Portsmouth, UK.
BMJ Case Rep. 2013 Jan 22;2013:bcr2012008040. doi: 10.1136/bcr-2012-008040.
We present a 46-year-old Caucasian lady with symptomatic hypocalcaemia. Investigations revealed markedly raised parathyroid hormone (PTH) levels with vitamin D deficiency. A number of conditions causing secondary hyperparathyroidism were ruled out from her medical history and initial investigations. The main differential diagnoses were vitamin D deficiency and PTH resistance (pseudohypoparathyroidism, PHP). With high-normal serum phosphate and normal alkaline phosphatase, and a lack of symptoms associated with osteomalacia, vitamin D deficiency alone was unlikely to be the cause of hypocalcaemia. Given a normal physical appearance, genetic testing was arranged and confirmed the diagnosis of PHP type Ib. She is currently taking activated vitamin D to maintain calcium homeostasis. PTH resistance is the hallmark of PHP, a rare complex genetic disorder, which can be easily missed resulting in potentially serious consequences.
我们报告一位46岁有症状性低钙血症的白种女性。检查发现甲状旁腺激素（PTH）水平显著升高且伴有维生素D缺乏。从她的病史和初步检查中排除了一些导致继发性甲状旁腺功能亢进的疾病。主要鉴别诊断为维生素D缺乏和PTH抵抗（假性甲状旁腺功能减退症，PHP）。鉴于血清磷酸盐处于正常高值且碱性磷酸酶正常，并且缺乏与骨软化症相关的症状，仅维生素D缺乏不太可能是低钙血症的原因。考虑到其外貌正常，安排了基因检测并确诊为Ib型PHP。她目前正在服用活性维生素D以维持钙稳态。PTH抵抗是PHP的标志，PHP是一种罕见的复杂遗传性疾病，很容易被漏诊，从而导致潜在的严重后果。
