{"title":"Recombinant PTH Infusion in a Child With Sanjad-Sakati Syndrome Refractory to Conventional Therapy.","authors":"Ibrahim Bali, Reem Al Khalifah","doi":"10.1210/jcemcr/luae059","DOIUrl":null,"url":null,"abstract":"<p><p>Hypoparathyroidism is the most common endocrinological feature in children with Sanjad-Sakati syndrome. Treatment includes active vitamin D and calcium supplementation. Here, we report a case of a newborn with Sanjad-Sakati syndrome who had severe hypocalcemia since birth who responded to PTH subcutaneous pump infusion. The child was born at 35 weeks with hypocalcemia since the first day of life. The standard medical treatment proved ineffective for the newborn, necessitating the administration of unusually high doses of oral and IV calcium and vitamin D analogue for a 2 months. As a result, intermittent subcutaneous injections of PTH were commenced, resulting in an initial improvement in calcium levels, although this proved to be short-lived. Subsequently, a switch to continuous infusion via a Medtronic Vio pump was made, which unfortunately resulted in iatrogenic hypercalcemia, requiring management of hypercalcemia. Later, calcium carbonate and alfacalcidol were resumed at a lower dosage and continued to have average requirements for patients with hypoparathyroidism. PTH subcutaneous infusion can be highly effective in refractory hypocalcemia cases and can significantly impact the treatment course and facilitate hospital discharge as seen in our case. Careful dosage and monitoring are required to avoid iatrogenic hypercalcemia.</p>","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11035914/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"JCEM case reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1210/jcemcr/luae059","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/4/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Hypoparathyroidism is the most common endocrinological feature in children with Sanjad-Sakati syndrome. Treatment includes active vitamin D and calcium supplementation. Here, we report a case of a newborn with Sanjad-Sakati syndrome who had severe hypocalcemia since birth who responded to PTH subcutaneous pump infusion. The child was born at 35 weeks with hypocalcemia since the first day of life. The standard medical treatment proved ineffective for the newborn, necessitating the administration of unusually high doses of oral and IV calcium and vitamin D analogue for a 2 months. As a result, intermittent subcutaneous injections of PTH were commenced, resulting in an initial improvement in calcium levels, although this proved to be short-lived. Subsequently, a switch to continuous infusion via a Medtronic Vio pump was made, which unfortunately resulted in iatrogenic hypercalcemia, requiring management of hypercalcemia. Later, calcium carbonate and alfacalcidol were resumed at a lower dosage and continued to have average requirements for patients with hypoparathyroidism. PTH subcutaneous infusion can be highly effective in refractory hypocalcemia cases and can significantly impact the treatment course and facilitate hospital discharge as seen in our case. Careful dosage and monitoring are required to avoid iatrogenic hypercalcemia.
甲状旁腺功能减退是桑贾德-萨卡蒂综合征患儿最常见的内分泌特征。治疗方法包括积极补充维生素 D 和钙剂。在此,我们报告了一例患有桑贾德-萨卡蒂综合征的新生儿,该患儿自出生后就出现了严重的低钙血症,并对PTH皮下泵输注产生了反应。患儿于 35 周时出生,出生后第一天就出现低钙血症。标准的药物治疗对新生儿无效,需要口服和静脉注射超大剂量的钙剂和维生素 D 类似物达两个月之久。因此,开始间歇性皮下注射 PTH,使钙水平得到初步改善,但这种改善是短暂的。随后,改用美敦力 Vio 泵持续输注,不幸的是,这导致了先天性高钙血症,需要对高钙血症进行治疗。后来又恢复使用碳酸钙和阿法骨化醇,但剂量较小,甲状旁腺功能减退症患者的平均需求量仍在继续。PTH皮下注射对难治性低钙血症病例非常有效,可以显著改善疗程,促进出院,我们的病例就是如此。为避免出现先天性高钙血症,必须谨慎用药并进行监测。