对四名患有沃尔夫拉姆综合征和尿动力学异常的患者进行长期临床随访
Nimisha S Dange1, Nikhil Shah1,2, Chirantap Oza1
1Department of Growth and Pediatric Endocrinology, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, India.
Journal of pediatric endocrinology & metabolism : JPEM
|March 11, 2024
概括
沃尔夫拉姆综合征是一种罕见的遗传疾病,通常涉及尿路功能障碍. 这项研究强调了评估受影响儿童的膀问题的重要性,在大多数情况下揭示了膀的收缩能力不佳.
科学领域:
- 儿科内分泌学 儿科内分泌学
- 遗传学 遗传学 是一个
- 泌尿器科 泌尿器科 泌尿器科 泌尿器科
背景情况:
- 沃尔夫拉姆综合征是一种罕见的遗传性疾病,具有多种内分泌和神经缺陷的特征,包括糖尿病,无味糖尿病,视力缩和神经感应聋.
- 尿路功能障碍 (UD) 越来越被认为是沃尔夫拉姆综合征的重要组成部分,有助于发病率和死亡率,特别是末期病.
- WFS1基因与沃尔夫拉姆综合征有关,突变导致了特有的临床特征.
研究的目的:
- 介绍四个遗传学证实的儿童沃尔夫拉姆综合征病例的长期随访情况.
- 评估沃尔夫拉姆综合征儿童的泌尿动力学特征和尿路功能.
- 突出下尿路功能障碍在沃尔夫拉姆综合征的管理中的临床意义.
主要方法:
- 研究人员对4名经遗传确认患有沃尔夫拉姆综合征的儿童进行了前性随访研究.
- 审查了临床数据,包括初始表现和疾病进展.
- 进行了尿动力学研究,以评估患有下尿路症状的儿童的膀和关功能.
主要成果:
- 这四名患者都在生命的第一个十年中出现了依赖胰岛素的糖尿病.
- 三名患者表现出持续的多尿症和多滴水症,导致糖尿病无味症的诊断.
- 泌尿动力学评估显示,在两名患者中出现过度收缩性排泄物,在一名患者中出现了关节-排泄物不协同作用,其中三名患者最终出现了收缩性差的膀.
结论:
- 在一名患者身上发现了WFS1基因 (第6个外因子) 中的一种新型同卵性缺失.
- 这项研究强调了评估沃尔夫拉姆综合征儿童下尿路功能障碍的关键重要性.
- 膀收缩性差是儿科沃尔夫拉姆综合征的重要长期结果,需要适当的管理策略,如干净的间歇性导管.
相关概念视频
Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations
Renal calculi, commonly termed kidney stones, are crystalline solid masses that form in the kidneys but can occur at any point within the urinary system, encompassing the kidneys, ureters, bladder, and urethra.The pathophysiology of renal stones involves several key factors: supersaturation of the urine with stone-forming constituents, changes in urine pH, a decrease in urine volume, and the presence of substances that promote or inhibit stone formation.Supersaturation of Urine: This is the...
Urinary Tract Calculi III: Medical Management
The diagnosis of renal calculi involves several imaging techniques, including non-contrast CT scans and ultrasound. These methods help visualize kidney stones, assess their size and location, and detect possible obstructions. Additionally, Measuring urine pH is useful for diagnosing specific stone types, such as struvite (alkaline pH) and uric acid stones (acidic pH). Cystine stones are primarily linked to cystinuria, a genetic condition. A urinalysis helps detect blood in the urine (hematuria)...
Urinary Tract Calculi VI: Surgical Management
Procedures for Kidney StonesMedical intervention is necessary when kidney stones or renal calculi are too large to pass spontaneously (typically greater than 5 millimeters) when stones are accompanied by symptomatic infection (such as fever or pyelonephritis), when they impair kidney function, or when they cause persistent symptoms like severe pain, nausea, or urinary retention. Additionally, patients with only one kidney or those who cannot be treated with medical management also require...
Imaging Studies IV: Magnetic Resonance Imaging
Introduction:Magnetic Resonance Imaging, or MRI, can include a specialized imaging technique of the urinary system known as Magnetic Resonance Urography (MRU). This radiation-free technique uses strong magnetic fields and radio waves to produce detailed images with the help of a computer. MRU is particularly effective for visualizing fluid-filled structures like the kidneys, ureters, and bladder.Applications of MRI in the Genitourinary SystemKidneys and Ureters: MRI detects tumors, cysts,...
Imaging Studies VI: Voiding Cystourethrography and Cystography
Voiding Cystourethrography (VCUG) and Cystography are specialized radiographic procedures used to examine the structure and function of the bladder and urethra.Voiding Cystourethrography (VCUG)A Voiding Cystourethrogram (VCUG) is a diagnostic imaging procedure that assesses the anatomy and function of the lower urinary tract. It focuses on the bladder, bladder neck, and urethra, helping detect abnormalities such as vesicoureteral reflux (VUR)—the backward or reverse flow of urine into the...
Urodynamic Studies: Uroflowmetry
Uroflowmetry is a non-invasive urodynamic test designed to measure various aspects of urination, including volume, flow rate, and the time to void. This test is crucial for diagnosing and assessing conditions such as bladder outlet obstruction, bladder dysfunction, incomplete bladder emptying, incontinence, and urinary tract blockages caused by benign prostatic hyperplasia (BPH) and urethral strictures.Pre-Test Instructions:Before a uroflowmetry test, patients are typically advised to drink...


