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Jeune syndrome associated with cystinuria: report of two sisters
S Rinaldi1, C Dionisi-Vici, B Goffredo
1Division of Nephrology and Dialysis, Bambino Gesú Children's Hospital, Rome, Italy.
American Journal of Medical Genetics
|November 1, 1990
Insights
Jeune syndrome, a severe condition, is rarely seen with cystinuria. This report details two sisters with both disorders, highlighting a previously undocumented genetic association.
Area of Science:
- Pediatric Nephrology
- Medical Genetics
- Rare Diseases
Background:
- Jeune syndrome, also known as asphyxiating thoracic dystrophy, is a severe skeletal dysplasia.
- It is typically lethal in infancy, with survivors experiencing progressive renal failure and hepatic fibrosis.
- Cystinuria is an inherited disorder of amino acid transport affecting the kidneys and intestines.
Abstract:
Jeune syndrome is generally lethal in the first months of life. Surviving patients develop progressive renal failure and hepatic fibrosis. We describe 2 sisters, aged 7 and 2 years, respectively, who had Jeune syndrome associated with cystinuria. To our knowledge, this is the first reported association of these 2 autosomal recessive disorders.