Multiple bladder diverticula with Williams-Beuren syndrome: a case report

التفاصيل البيبلوغرافية
العنوان: Multiple bladder diverticula with Williams-Beuren syndrome: a case report
المؤلفون: Xiao-Hui Qiao, Jian-hua Mao, Jing Chen, Lezhen Ye, Dongmei Zong
المصدر: Transl Pediatr
بيانات النشر: AME Publishing Company, 2020.
سنة النشر: 2020
مصطلحات موضوعية: Williams-beuren syndrome, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, business.industry, Urinary system, media_common.quotation_subject, 030232 urology & nephrology, Case Report, 030204 cardiovascular system & hematology, medicine.disease, Urination, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Enuresis, Lower urinary tract symptoms, Pediatrics, Perinatology and Child Health, medicine, Williams syndrome, cardiovascular diseases, medicine.symptom, business, Multiple bladder diverticula, media_common
الوصف: Williams-Beuren syndrome (WBS) is an autosomal dominant disorder caused by a gene deletion on chromosome 7q11.23. Patients with WBS usually show a group of features such as developmental delay, cardiovascular anomalies, mental retardation, and characteristic facial appearance. It occurs in 1:7,500 live births and affects males and females equally. Recent studies showed that lower urinary tract symptoms were also frequent in WBS patients. However, there is extremely rare study report non-monosymptomatic nocturnal enuresis as the main manifestation of Williams syndrome in children. We reported a child with non-monosymptomatic nocturnal enuresis and multiple bladder diverticula as the main implications of Williams syndrome. A 7.6-year-old girl was admitted to our hospital due to frequent micturition, urgency, and nocturnal enuresis for 4 years, and B ultrasound of urinary system revealed multiple bladder diverticula. The patient was found to have 7q11.23 deletion that involves the elastin gene for WBS. Multiple bladder diverticula in WBS patients can lead to many lower urinary tract symptoms. The treatment for the lower urinary tract symptoms in WBS patients with multiple bladder diverticula is lacking. Lower urinary tract symptoms should be considered as a significant indicator of the clinical diagnosis of WBS and have a significant negative impact on patient's quality of life.
اللغة: English
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9ed7c958de8be58761bd0aa5ffe3771
https://europepmc.org/articles/PMC7804474/
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....f9ed7c958de8be58761bd0aa5ffe3771
قاعدة البيانات: OpenAIRE