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Persistent non-familial asymptomatic hyperphosphatasemia: a report on three cases
1Department of Pediatrics, School of Medicine, Niigata University, Japan.
Acta Paediatrica (Oslo, Norway : 1992)
|March 1, 1995
Summary
Persistent non-familial asymptomatic hyperphosphatasemia (PNAH) is identified in male children with elevated serum alkaline phosphatase (ALP) activity. This condition, with skeletal origins, persists for years without apparent disease, suggesting a benign hyperphosphatasemia variant.
Area of Science:
- Biochemistry
- Pediatrics
- Genetics
Background:
- Elevated serum alkaline phosphatase (ALP) activity, or hyperphosphatasemia, can occur in the absence of underlying disease.
- Familial forms of asymptomatic hyperphosphatasemia are known, but non-familial variants require further characterization.
Purpose of the Study:
- To describe a novel cohort of male children with persistent, asymptomatic, and non-familial hyperphosphatasemia.
- To differentiate this condition from known familial and transient hyperphosphatasemias.
Main Methods:
- Case series involving three male children with incidentally discovered elevated serum ALP.
- Isoenzyme analysis to determine the origin of elevated ALP.
- Longitudinal follow-up to assess persistence and absence of disease.
Main Results:
- Three male children (9 days, 2 years, 13 years) presented with persistently elevated serum ALP activity for 6-10 years.
- Isoenzyme studies confirmed a skeletal origin for the elevated ALP in all patients.
- No evidence of underlying disease or familial inheritance was found.
Conclusions:
- The cases represent a distinct entity, termed persistent non-familial asymptomatic hyperphosphatasemia (PNAH).
- PNAH appears to be a benign condition, differing from familial hyperphosphatasemia.
- Further research and literature review suggest PNAH may be a recognized, albeit previously unnamed, variant of benign hyperphosphatasemia.