Late diagnosed Ochoa Syndrome: Case report and literature review

Journal Title: Pediatric Urology Case Reports - Year 2016, Vol 3, Issue 4

Abstract

Ochoa syndrome, also known as urofacial syndrome, is a rare genetic disease (OMIM #236730) with autosomal recessive inheritance of mutations in the heparanase 2 (HPSE2) and the LRIG2 genes, characterized by functional obstructive uropathy and unusual facial abnormalities. Progression to renal failure if not early diagnosed is inevitable. The therapeutic goals are to restore bladder emptying, preventing damage to the urinary tract with the use of prophylactic antibiotics, clean intermittent catheterization, anticholinergic use, botulinum toxin injection, urinary diversion and bladder augmentation to slow the evolution of the disease. This article aims to report a patient with late diagnosis of Ochoa Syndrome, as well as describe its characteristics and clinical outcome.

Authors and Affiliations

Letícia Alves Antunes, Carolina Talini, Bruna Cecilia Neves de Carvalho, Naiane Mayer, Sabrina Tristão Longo, Antônio Carlos Moreira Amarante

Keywords

Related Articles

Congenital giant megaureter associated with ipsilateral multicystic dysplastic kidney in newborn

Congenital giant megaureter presents as abdominal mass and impose diagnostic difficulties. It can be associated with other upper urinary tract anomalies. A female newborn with antenatal diagnosis of polycystic kidneys wa...

Primary renal mature cystic teratoma in an infant: A rare case presenting with an acute intestinal obstruction

Primary renal teratomas are uncommon and preoperative diagnosis is difficult. Additional pathologies may be more difficult to diagnosis and may increase morbidity. We are reporting a case of large primary renal cystic te...

Giant congenital anterior urethral diverticulum with left side vesicoureteral reflux: A case report

Anterior urethral diverticulum is a rare entity. A 12 year old boy presented with poor stream, recurrent urinary tract infection and fluctuant penile swelling at penoscrotal junction. Diagnosis of anterior urethral diver...

Averting the legacy of kidney disease--focus on childhood

World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as th...

Obesity and kidney disease: Hidden consequences of the epidemic

Obesity has become a worldwide epidemic, and its prevalence has been projected to grow by 40% in the next decade. This increasing prevalence has implications for the risk of diabetes, cardiovascular disease and also for...

Download PDF file
  • EP ID EP455083
  • DOI 10.14534/PUCR.2016418817
  • Views 56
  • Downloads 0

How To Cite

Letícia Alves Antunes, Carolina Talini, Bruna Cecilia Neves de Carvalho, Naiane Mayer, Sabrina Tristão Longo, Antônio Carlos Moreira Amarante (2016). Late diagnosed Ochoa Syndrome: Case report and literature review. Pediatric Urology Case Reports, 3(4), 121-127. https://europub.co.uk/articles/-A-455083