title: Lowe syndrome: report of five cases.
abstract: BACKGROUND
  Lowe Syndrome, or Oculocerebrorenal Dystrophy (OCRL), has a recessive inheritance linked to X chromosome. It presents cataracts and glaucoma, delay in neuropsychomotor development, cognitive deficits, and renal Fanconi syndrome.
  
  
  OBJECTIVE
  Describe five patients with OCRL, attended at Tubulopathy outpatient clinic.
  
  
  METHODS
  We performed a retrospective assessment of 5 male patient clinical charts of OCRL patients.
  
  
  RESULTS
  Mean age at first consultation was 76.5 and mean follow up interval was 30.5 months (8-53 months). Symptoms and clinical signs included cataracts and nystagmus. Neuropsychomotor development and weight and height deficits were present in whole cases, as well as polyuria, polydipsia, and intestinal constipation, metabolic acidosis, phosphaturia, bicarbonaturia, proteinuria, hypercalciuria, hyperuricosuria. Nephrocalcinosis was identified in one, renal lithiasis in three, and reduced kidney size in two patients. We found pathological fractures and rachitism in two, bone rarefaction and delay of bone age in all of the patients. One patient presented a reduction in the rhythm of glomerular filtration. Therapeutically, all patients received alkali, phosphorus and vitamin D reposition in addition to a dietary orientation adequate to their needs.
  
  
  CONCLUSIONS
  This study emphasizes the importance of early diagnosis and medico-nutritional followup, to avoid complications related to metabolic disturbances.
authors.affiliation: Division of Pediatric Nephrology, Departament of Pediatrics, UNIFESPEPM- Universidade Federal de São Paulo- SP- Brazil, Division of Pediatric Nephrology, Hospital Infantil Darcy Vargas, São Paulo, SP, Brazil.
authors.forename: Marta Liliane de Almeida
authors.initials: ML
authors.lastname: Maia
authors.forename: Maria Luiza Dautro Moreira
authors.initials: ML
authors.lastname: do Val
authors.forename: Camila Penteado
authors.initials: CP
authors.lastname: Genzani
authors.forename: Fernanda Alves Thomaz
authors.initials: FA
authors.lastname: Fernandes
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: de Andrade
authors.forename: João Tomás de Abreu
authors.initials: JT
authors.lastname: Carvalhaes
mesh_terms: D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D008297:Male; D009800:Oculocerebrorenal Syndrome / Q000175:diagnosis