Majumder Anirban, Basu Sagar
Endocrinology Department, KPC Medical College, West Bengal University of Health Sciences, Kolkata, India.
Neurology Department, KPC Medical College, West Bengal University of Health Sciences, Kolkata, India.
J ASEAN Fed Endocr Soc. 2020;35(1):129-132. doi: 10.15605/jafes.035.01.23. Epub 2020 Apr 28.
Repeated blood transfusions in transfusion dependent thalassemia (TDT) leads to iron overload-related endocrine complications. Hypoparathyroidism (HPT) with severe signs of hypocalcemia is a recognized complication among these patients. A 14-year-old thalassaemic boy, on regular transfusion and on anticonvulsant therapy with a presumptive diagnosis of epilepsy for the last 1 year, was admitted with high fever and severe muscle cramps with positive Trousseau's sign. He was diagnosed as a case of primary HPT and magnesium deficiency on the basis of low serum calcium, high phosphate, normal alkaline phosphates, very low intact parathyroid hormone (iPTH), normal serum vitamin D and very low serum magnesium level. His calcium, magnesium and phosphate level normalised following treatment with intravenous magnesium and calcium. His iPTH improved but remained at low normal. He was discharged from hospital with oral calcium, calcitriol, and magnesium supplementation. The anticonvulsant (Phenobarbitone) was successfully withdrawn gradually over the next six months without any recurrence of seizure in the subsequent 3 years of follow up. Acquired HPT (apparently from hemosiderosis) is a common cause of hypocalcemia; and magnesium depletion further complicated the situation leading to severe hypocalcemia with recurrent episodes of convulsion. Magnesium replacement improved the parathyroid hormone (PTH) value proving its role in acquired HPT. Very high phosphate level on admission and poor PTH response with respect to the low serum calcium, indicates intrinsic parathyroid pathology. Metabolic abnormalities should always be evaluated in thalassaemic subject with seizure disorder and it appears that the initial convulsive episodes were due to hypocalcemia. Muscle pain, cramps or convulsion may occur from HPT and simultaneous magnesium deficiency in transfusion dependent thalassaemic subjects. Metabolic correction is more important than anticonvulsant medication. Calcium and magnesium should both be assessed routinely in transfusion dependent thalassemic patients.
对于依赖输血的地中海贫血(TDT)患者,反复输血会导致与铁过载相关的内分泌并发症。甲状旁腺功能减退症(HPT)伴严重低钙血症体征是这些患者中公认的并发症。一名14岁的地中海贫血男孩,定期输血并接受抗惊厥治疗,过去1年推测诊断为癫痫,因高热和严重肌肉痉挛伴Trousseau征阳性入院。根据低血清钙、高磷酸盐、正常碱性磷酸酶、极低的完整甲状旁腺激素(iPTH)、正常血清维生素D和极低的血清镁水平,他被诊断为原发性HPT和镁缺乏症。经静脉注射镁和钙治疗后,他的钙、镁和磷酸盐水平恢复正常。他的iPTH有所改善,但仍处于低正常水平。他出院时接受口服钙、骨化三醇和镁补充剂治疗。抗惊厥药(苯巴比妥)在接下来的六个月中逐渐成功停用,在随后的3年随访中未出现任何癫痫复发。获得性HPT(显然由含铁血黄素沉着症引起)是低钙血症的常见原因;镁缺乏进一步使情况复杂化,导致严重低钙血症并伴有反复发作的惊厥。补充镁改善了甲状旁腺激素(PTH)值,证明了其在获得性HPT中的作用。入院时极高的磷酸盐水平以及对低血清钙的不良PTH反应表明存在甲状旁腺内在病变。对于患有癫痫症的地中海贫血患者,应始终评估代谢异常情况,并且最初的惊厥发作似乎是由于低钙血症引起的。在依赖输血的地中海贫血患者中,HPT和同时存在的镁缺乏可能会导致肌肉疼痛、痉挛或惊厥。代谢纠正比抗惊厥药物更重要。对于依赖输血的地中海贫血患者,应常规评估钙和镁水平。