Department of Pediatric Endocrinology & Diabetes, Athens Medical Center, Athens, Greece.
Department of Pediatric Endocrinology & Diabetes, 3rd Department of Pediatrics, Attikon University Hospital, Athens, Greece.
Indian J Pediatr. 2021 Jun;88(6):582-585. doi: 10.1007/s12098-020-03538-y. Epub 2020 Nov 18.
Initiation of desmopressin acetate (DDAVP) for untreated diabetes insipidus (DI) in Wolfram syndrome (WS) causes abrupt volume expansion resulting in particularly high secretion of Atrial Natriuretic Peptide (ANP) and/or Brain Natriuretic Peptide (BNP), which in turn blocks all stimulators of zona glomerulosa steroidogenesis, resulting in secondary mineralocorticoid deficiency and acute hyponatremia, causing renal salt wasting (RSW). Two sisters, a 19-y-old girl (A) and a 7-y-old girl (B) with WS, presented with severe polyuria-polydipsia due to never treated DI. Both had neurogenic bladder and "B" had severe hydronephrosis secondary to untreated grade III bilateral vesicoureteral reflux. They initiated therapy with oral melt DDAVP which resulted in RSW. ANP was found ×50 and BNP ×2-4 fold elevated. Fludrocortisone 100-200 × 2 μg/d controlled natriuresis and restored electrolytes to normal within 48 h. Fludrocortisone treatment rescues otherwise potentially life-threatening hyponatremia due to RSW and the secondary mineralocorticoid deficiency driven by elevated ANP and/or BNP, caused by sudden volume expansion following DDAVP initiation.
Wolfram 综合征（WS）未治疗的尿崩症（DI）患者开始使用醋酸去氨加压素（DDAVP）会导致突然的血容量扩张，从而导致心房利钠肽（ANP）和/或脑利钠肽（BNP）的大量分泌，这反过来又会阻断所有球状带类固醇生成的刺激物，导致继发性盐皮质激素缺乏和急性低钠血症，引起肾性盐丢失（RSW）。两名患有 WS 的姐妹，一名 19 岁的女孩（A）和一名 7 岁的女孩（B），因从未治疗过的 DI 而出现严重的多尿多饮。两人均有神经性膀胱，“B”因未经治疗的 III 级双侧输尿管反流而患有严重的肾积水。她们开始口服 DDAVP 治疗，导致 RSW。发现 ANP 升高 50 倍，BNP 升高 2-4 倍。氟氢可的松 100-200μg/d 控制了钠排泄，并在 48 小时内将电解质恢复正常。氟氢可的松治疗可挽救因 RSW 和继发性盐皮质激素缺乏引起的潜在威胁生命的低钠血症，这是由 DDAVP 开始后血容量突然扩张引起的，继发性盐皮质激素缺乏是由 ANP 和/或 BNP 升高引起的。
