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Hydrops fetalis: lysosomal storage disorders in extremis
1Clinical Neuroscience Branch, National Institute of Mental Health, Bethesda, Maryland, USA.
Advances in Pediatrics
|January 25, 2000
Summary
Hydrops fetalis can be an extreme sign of lysosomal storage disorders. Increased physician awareness of this link aids early diagnosis, enabling genetic counseling and family planning for affected families.
Area of Science:
- Medical Genetics
- Neonatology
- Biochemistry
Background:
- Hydrops fetalis, characterized by excessive fetal fluid accumulation, presents a diagnostic challenge due to diverse etiologies.
- Lysosomal storage disorders (LSDs) are increasingly recognized as a significant cause of nonimmune hydrops fetalis.
- Ten specific LSDs, including MPS VII and Gaucher disease type 2, have been linked to hydrops fetalis.
Purpose of the Study:
- To highlight the association between lysosomal storage disorders and hydrops fetalis.
- To emphasize the importance of physician awareness in diagnosing these rare metabolic conditions.
- To underscore the potential for prenatal diagnosis and genetic counseling in affected families.
Main Methods:
- Review of diagnosed cases of hydrops fetalis and underlying lysosomal storage disorders.
- Analysis of the clinical presentation and diagnostic challenges associated with LSDs presenting as hydrops fetalis.
- Discussion of diagnostic approaches, including prenatal testing.
Main Results:
- Hydrops fetalis is a recognized, sometimes common, presentation for at least ten different lysosomal storage disorders.
- Many LSDs causing hydrops fetalis are identified only after recurrent pregnancy losses.
- Early diagnosis through high clinical suspicion and appropriate testing is crucial.
Conclusions:
- Increased physician awareness of hydrops fetalis as a manifestation of LSDs is vital for accurate diagnosis and understanding disease incidence.
- Accurate diagnosis allows for genetic counseling and family planning, offering crucial support for affected families.
- Lysosomal disorders are among the few causes of nonimmune hydrops fetalis where recurrence risks can be reliably determined.
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