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首页> 外文期刊>International braz j urol >Early diagnosis of the urofacial syndrome is essential to prevent irreversible renal failure
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Early diagnosis of the urofacial syndrome is essential to prevent irreversible renal failure

机译：尿液综合征的早期诊断对于防止不可逆的肾功能衰竭至关重要

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INTRODUCTION: The urofacial or Ochoa syndrome is a rare disease characterized by the presence of functional obstructive uropathy associated with peculiar facial features when patients attempt to smile or laugh. Unfortunately, many of these patients remain without proper diagnosis or adequate treatment due to lack of recognition of the disease. This can ultimately result in upper tract deterioration and eventual renal failure. We present our experience with this rare syndrome. MATERIALS AND METHODS: We identified 3 patients who presented initially with acute renal failure, urinary tract infection (UTI) and severe dysfunctional elimination. All patients were thoroughly evaluated, including screening for spinal cord anomalies, and were subsequently diagnosed with urofacial syndrome. RESULTS: At the outset, the two older patients (aged 4 and 9 years) presented with the typical facial features when attempting to smile or laugh. One patient in the newborn period presented with urinary and fecal retention and septicemia and, to our knowledge, represents the youngest case of urofacial syndrome reported so far. All patients were evaluated with ultrasonography, renal scan, voiding cystourethrogram (VCUG) and urodynamics. Findings included hydronephrosis and a thick-walled, trabeculated bladder with poor compliance and detrusor hypereflexia respectively in each patient. All were subsequently treated with clean intermittent catheterization (CIC), antibiotic prophylaxis and anticholinergic therapy. One patient required appendicovesicostomy for CIC due to discomfort secondary to a sensate urethra. CONCLUSIONS: Our series demonstrates that early recognition of this rare syndrome is necessary to adequately treat and prevent upper tract deterioration in these unique individuals. Although the urofacial is difficult to diagnose in infants, cognizance must be maintained in order to prevent severe subsequent sequalae.
机译：介绍：尿液或OchoA综合征是一种罕见的疾病，其特征在于，当患者试图微笑或笑时，存在与特殊面部特征相关的功能性阻塞性尿声。不幸的是，由于缺乏对疾病的识别，许多患者仍然没有适当的诊断或充分的治疗。这可能最终导致上部道劣化和最终肾功能衰竭。我们展示了这种罕见综合症的经验。材料和方法：我们确定了3名患者最初用急性肾功能衰竭，尿路感染（UTI）和严重的功能失调。彻底评估所有患者，包括脊髓异常筛查，随后被诊断为尿造综合征。结果：首发，两名较老的患者（4岁和9岁）在试图微笑或笑时呈现典型的面部特征。新生儿中的一名患者患有泌尿和粪便保留和败血症，并且致力于我们的知识，代表到目前为止报告的尿液综合征最小的情况。所有患者均采用超声检查，肾扫描，空隙囊尾曲线图（VCUG）和鞋芯。调查结果包括肾内血症和厚壁的膀胱囊，分别在每位患者中分别具有较差的顺应性和尿造障碍的过度折叠。随后随后用干净的间歇导管（CIC），抗生素预防和抗胆碱能治疗治疗。由于感觉尿道的不适，一名患者对CIC的阑尾病毒造口术。结论：我们的系列表明，早期识别这种罕见的综合征是充分治疗和预防这些独特个体的上部道劣化。虽然尿液难以诊断婴儿，但必须保持认知以防止严重的后续续集。

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