Primary hyperoxaluria in infants: medical, ethical, and economic issues.
J Pediatr
; 135(6): 746-50, 1999 Dec.
Article
em En
| MEDLINE
| ID: mdl-10586179
ABSTRACT
OBJECTIVES:
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, alanineglyoxalate 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.CONCLUSION:
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Contexto em Saúde:
2_ODS3
Problema de saúde:
2_muertes_prevenibles
Assunto principal:
Hiperoxalúria
Tipo de estudo:
Etiology_studies
/
Health_economic_evaluation
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Aspecto:
Ethics
Limite:
Humans
/
Infant
Idioma:
En
Revista:
J Pediatr
Ano de publicação:
1999
Tipo de documento:
Article
País de afiliação:
França