title: Primary hyperoxaluria in infants: medical, ethical, and economic issues.
abstract: OBJECTIVE
  Survey on the current medical approach to and the economic issues affecting infants with primary hyperoxaluria type 1.
  
  
  METHODS
  Questionnaire to specialized centers worldwide.
  
  
  RESULTS
  Seventy-eight infants were identified: 44% were of Muslim origin and 56% were not. The consanguinity rate was 76% and 0%, respectively. Thirty-three percent were treated in developing countries (group 1) and 67% in developed countries (group 2). Initial presentation (4.9 +/- 2.8 months) consisted of failure to thrive (22%), urinary tract infection (21%), and uremia (14%). Radiologic findings included nephrocalcinosis (91%), urolithiasis (44%), or both (22%). The diagnosis was based on family history, tissue biopsy, and urine oxalate level in most patients from group 1 and on urine oxalate and glycolate levels, alanine:glyoxalate aminotransferase activity, and DNA analysis in patients from group 2. Therapeutic withdrawal was the final option for 40% of children; financial reasons were given for 10 of 17 patients from group 1 and 0 of 9 from group 2. End-stage renal disease started at 3.2 +/- 6.4 years of age and was present in half of the patients at the time of diagnosis. Fifty-two percent of the patients died: 82% in group 1 versus 33% in group 2; 33% of patients who underwent transplantation died versus 71% of those who did not.
  
  
  CONCLUSIONS
  The management of primary hyperoxaluria type 1 in infants is a major example of the ethical, epidemiologic, technical, and financial challenges that are raised by recessive inherited diseases with early life-threatening onset. In certain circumstances, oxalosis can be regarded as a condition for which therapeutic withdrawal may be an acceptable option.
authors.affiliation: Département de Pédiatrie, Université Claude Bernard, Lyon, France.
authors.forename: P
authors.initials: P
authors.lastname: Cochat
authors.forename: P C
authors.initials: PC
authors.lastname: Koch Nogueira
authors.forename: M A
authors.initials: MA
authors.lastname: Mahmoud
authors.forename: N V
authors.initials: NV
authors.lastname: Jamieson
authors.forename: J I
authors.initials: JI
authors.lastname: Scheinman
authors.forename: M O
authors.initials: MO
authors.lastname: Rolland
mesh_terms: D019049:Developed Countries; D003906:Developing Countries; D005006:Ethnicity; D006801:Humans; D006959:Hyperoxaluria / Q000150:complications / Q000175:diagnosis* / Q000401:mortality / Q000628:therapy*; D007223:Infant; D007676:Kidney Failure, Chronic / Q000209:etiology; D012189:Retrospective Studies; D016019:Survival Analysis