家族性低钙高钙血症1例

IF 0.1 Q4 OTORHINOLARYNGOLOGY
Muhammad Rasedul Hasan Bulbul, Mohammed Abdus Sattar
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引用次数: 0

摘要

背景:原发性甲状旁腺功能亢进(PHPT)是一种常见的内分泌疾病,是导致高钙血症的主要良性原因。它可能是由于自主分泌甲状旁腺激素(PTH),独立于血清钙水平。家族性低钙性高钙血症(FHH)是一组常染色体显性遗传病,仅影响钙代谢调节。它通常是由钙敏感受体(CaSR)基因的杂合错义突变之一引起的,该突变可上调甲状旁腺细胞的设定点。当CaSR受体失活时,尽管钙含量相对较高,但PTH不受抑制,这使得FHH与PHPT相似。我们提出一个独特的病例合并FHH和怀疑甲状旁腺腺瘤。病例总结:一名10岁女孩,有症状的严重高钙血症,高甲状旁腺激素,遗传诊断为FHH,因手术切除疑似甲状旁腺瘤而转至耳鼻喉头颈外科。生化检查显示血钙和甲状旁腺激素升高。钙-肌酐清除率为>0.01(0.16)。她的甲状旁腺造影显示甲状旁腺腺瘤阴性,但颈部超声显示右下甲状旁腺肿大。她接受手术切除右上、下甲状旁腺。但术后患者血清钙、甲状旁腺激素升高,症状无变化。结论:正确诊断高钙血症的病因是保证正确治疗的关键。FHH患者应避免手术治疗,并应区分PHPT,以确定手术是否应包括甲状旁腺切除术并切除疑似甲状旁腺瘤。孟加拉国[J] otorhinolyngol 2023;(1): 29日39-44
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A Case of Familial Hypocalciuric Hypercalcemia
Background: Primary hyperparathyroidism (PHPT) is a common endocrine disorder that is the leading benign cause of hypercalcemia. It may occur due to autonomous hypersecretion of parathyroid hormone (PTH), independently of serum calcium levels. Familial hypocalciuric hypercalcemia (FHH) is a group of autosomal dominant rare genetic diseases only affecting the regulation of calcium metabolism. It is usually caused by one of many heterozygous missense mutations in the calcium-sensing receptor (CaSR) gene, which could up-regulate the set point of parathyroid cells. When the CaSR receptor is inactivated, PTH is not suppressed despite relatively high calcium, which makes FHH similar to PHPT. We present a unique case of concomitant FHH and suspected parathyroid adenoma. Case summary: A 10-year-old girl with symptomatic severe hypercalcemia, high PTH, and genetically diagnosed as FHH was referred to the department of otolaryngologyhead and neck surgery due to surgical excision of suspected parathyroid adenoma. Her biochemical evaluation showed elevated serum calcium and PTH. The calcium– creatinine clearance ratio was >0.01 (0.16). Her parathyroid scintigraphy showed negative for parathyroid adenoma, but the ultrasonography of the neck revealed an enlarged right inferior parathyroid gland. She underwent surgical excision of both the right superior and inferior parathyroid glands. However, the patient’s serum calcium and parathyroid hormone increased in the postoperative period, and her symptoms remained unchanged. Conclusion: The correct diagnosis of the underlying cause of hypercalcemia is essential to ensure the proper treatment. Patients with FHH should avoid operative treatment, and PHPT should be differentiated to determine whether surgery should include parathyroidectomy with the removal of suspected parathyroid adenoma. Bangladesh J Otorhinolaryngol 2023; 29(1): 39-44
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