Prolidase deficiency among an Israeli population: prenatal diagnosis in a genetic disorder with uncertain prognosis
| Autor: | E. G. Scholten, A. Luder, H. Mandel, A. H. van Gennip, N. G. G. M. Abeling, C. Sheiman, Moshe Berant, A. Gutman |
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| Rok vydání: | 2000 |
| Předmět: |
Pathology
medicine.medical_specialty education.field_of_study Pediatrics Fetus Prolidase deficiency business.industry Genetic counseling Population Genetic disorder Obstetrics and Gynecology Prenatal diagnosis macromolecular substances medicine.disease Asymptomatic medicine Clinical severity medicine.symptom business education Genetics (clinical) |
| Zdroj: | Prenatal Diagnosis. 20:927-929 |
| ISSN: | 1097-0223 0197-3851 |
| DOI: | 10.1002/1097-0223(200011)20:11<927::aid-pd943>3.0.co;2-h |
| Popis: | Prolidase deficiency is an autosomal recessive disorder that is characterized by considerable inter- and intrafamilial variability in its clinical presentation, ranging from asymptomatic to severe and fatal illness. We report here, for the first time, prenatal diagnosis of prolidase deficiency in a family whose first child was severely affected since birth and died at an early age. However, unexpectedly, the parents decided to continue the second pregnancy, which produced a full-term, healthy-appearing baby. The diagnosis of severe prolidase deficiency was confirmed in the baby's leukocytes. At age 4 months the baby is asymptomatic. Since the clinical severity of the disorder cannot be predicted, genetic counselling remains problematic despite the feasibility of prenatal diagnosis. |
| Databáze: | OpenAIRE |
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