Abstract：
An 11-year-old male child who presented with increased frequency of urination, thirst and feeling of incomplete void was initially diagnosed with diabetes mellitus (DM) based on elevated blood sugar. Polyuria and polydipsia were confirmed even after normalisation of blood sugar. A standardised water deprivation test showed presence of central diabetes insipidus (DI) and patient was started on desmopressin. Presence of DM and DI led to suspicion of DIDMOAD/Wolfram syndrome and ophthalmic examination confirmed bilateral optic atrophy. Despite treatment for DM and DI the urinary complaints persisted, and ultrasound showed persistent bilateral hydronephroureterosis. Bladder workup including voiding cystourethrography (VCUG) and urodynamic study reported thickened trabeculated bladder wall along with overactivity, poor compliance and high bladder pressure. Bladder dysfunction has been documented to be associated with Wolfram syndrome and often may lead to chronic kidney disease which can be prevented by early diagnosis and appropriate management. The case highlights the need for comprehensive evaluation of children with urinary symptoms.
摘要：
一名11岁的男性儿童排尿频率增加，最初根据血糖升高诊断出口渴和不完整的感觉患有糖尿病（DM）。即使在血糖正常化后，也证实了多尿和多饮。标准化的缺水测试显示存在中央尿崩症（DI），患者开始服用去氨加压素。DM和DI的存在导致怀疑DIDMOAD/Wolfram综合征，眼科检查证实双侧视神经萎缩。尽管对DM和DI进行了治疗，但泌尿系统的投诉仍然存在，超声显示双侧持续性肾积水。膀胱检查包括排尿膀胱尿道造影（VCUG）和尿动力学研究报告膀胱壁小梁增厚伴过度活动，依从性差，膀胱压力高。膀胱功能障碍已被证明与Wolfram综合征有关，并且通常可能导致慢性肾脏疾病，可以通过早期诊断和适当的治疗来预防。该病例强调需要对有泌尿症状的儿童进行综合评估。
