PDF(Pubmed)
Abstract：
BACKGROUND: Holoprosencephaly (HPE) is a congenital malformation with various degrees of incomplete separation of the cerebral hemispheres due to differentiation disorders of the forebrain. Although HPE with diabetes insipidus due to associated pituitary dysfunction has been reported, HPE with the syndrome of inappropriate antidiuretic hormone secretion (SIADH) is very rare. Tolvaptan, a vasopressin V2 receptor antagonist, is effective in adults with SIADH. However, there is no report of its efficacy in infants with SIADH. The purpose of this report is to demonstrate that tolvaptan is effective for SIADH in infants and that administration of tolvaptan eliminates the need for restriction of water intake and sodium administration.
METHODS: A 2414-g female infant was born at 38 wk by normal vaginal delivery. Facial anomalies and head magnetic resonance imaging indicated semilobar HPE. After birth, she had hyponatremia due to SIADH and was treated using water and sodium restriction. However, she developed an exaggerated response to the fluid restrictions, resulting in large fluctuations in serum sodium levels. Subsequent administration of tolvaptan improved the fluctuations in serum sodium levels without the need for adjustment of water or sodium administration. Serum sodium was maintained within the normal range after discontinuation of tolvaptan at 80 d of life. There were no side effects, such as hypernatremia or liver dysfunction, during the administration of tolvaptan.
CONCLUSIONS: This is the first report on the safety and efficacy of tolvaptan in an infant with SIADH associated with HPE.
METHODS: A 2414-g female infant was born at 38 wk by normal vaginal delivery. Facial anomalies and head magnetic resonance imaging indicated semilobar HPE. After birth, she had hyponatremia due to SIADH and was treated using water and sodium restriction. However, she developed an exaggerated response to the fluid restrictions, resulting in large fluctuations in serum sodium levels. Subsequent administration of tolvaptan improved the fluctuations in serum sodium levels without the need for adjustment of water or sodium administration. Serum sodium was maintained within the normal range after discontinuation of tolvaptan at 80 d of life. There were no side effects, such as hypernatremia or liver dysfunction, during the administration of tolvaptan.
CONCLUSIONS: This is the first report on the safety and efficacy of tolvaptan in an infant with SIADH associated with HPE.
摘要：
背景：大前脑畸形（HPE）是一种先天性畸形，由于前脑的分化障碍，大脑半球存在不同程度的不完全分离。尽管已经报道了由于相关的垂体功能障碍而导致的HPE伴尿崩症，伴有抗利尿激素分泌不当（SIADH）综合征的HPE非常罕见。托伐普坦,加压素V2受体拮抗剂，对成人SIADH有效。然而,没有关于其在SIADH婴儿中的疗效的报道。本报告的目的是证明托伐普坦对婴儿SIADH有效，托伐普坦的给药消除了限制水摄入和钠给药的需要。
方法：一名2414-g女婴在38周通过正常阴道分娩出生。面部异常和头部磁共振成像提示半叶HPE。出生后,她患有SIADH引起的低钠血症,并接受了限水限钠治疗.然而,她对液体限制做出了夸张的反应，导致血清钠水平的大幅波动。随后施用托伐普坦改善了血清钠水平的波动，而无需调整水或钠的施用。生命80d停用托伐普坦后，血清钠维持在正常范围内。没有副作用,如高钠血症或肝功能障碍，在服用托伐普坦期间。
结论：这是关于托伐普坦在SIADH与HPE相关的婴儿中的安全性和有效性的第一份报告。
方法：一名2414-g女婴在38周通过正常阴道分娩出生。面部异常和头部磁共振成像提示半叶HPE。出生后,她患有SIADH引起的低钠血症,并接受了限水限钠治疗.然而,她对液体限制做出了夸张的反应，导致血清钠水平的大幅波动。随后施用托伐普坦改善了血清钠水平的波动，而无需调整水或钠的施用。生命80d停用托伐普坦后，血清钠维持在正常范围内。没有副作用,如高钠血症或肝功能障碍，在服用托伐普坦期间。
结论：这是关于托伐普坦在SIADH与HPE相关的婴儿中的安全性和有效性的第一份报告。
