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Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults.

Abstract：

BACKGROUND:Low serum levels of alkaline phosphatase (ALP) are a hallmark of hypophosphatasia. However, the clinical significance and the underlying genetics of low ALP in unselected populations are unclear. METHODS:In order to clarify this issue, we performed a clinical, biochemical and genetic study of 42 individuals (age range 20-77yr) with unexplained low ALP levels. RESULTS:Nine had mild hyperphosphatemia and three had mild hypercalcemia. ALP levels were inversely correlated with serum calcium (r=-0.38, p=0.012), pyridoxal phosphate (PLP; r=-0.51, p=0.001) and urine phosphoethanolamine (PEA; r=-0.49, p=0.001). Although many subjects experienced minor complaints, such as mild musculoskeletal pain, none had major health problems. Mutations in ALPL were found in 21 subjects (50%), including six novel mutations. All but one, were heterozygous mutations. Missense mutations were the most common (present in 18 subjects; 86%) and the majority were predicted to have a damaging effect on protein activity. The presence of a mutated allele was associated with tooth loss (48% versus 12%; p=0.04), slightly lower levels of serum ALP (p=0.002), higher levels of PLP (p<0.0001) and PEA (p<0.0001), as well as mildly increased serum phosphate (p=0.03). Ten individuals (24%) had PLP levels above the reference range; all carried a mutated allele. CONCLUSION:One-half of adult individuals with unexplained low serum ALP carried an ALPL mutation. Although the associated clinical manifestations are usually mild, in approximately 50% of the cases, enzyme activity is low enough to cause substrate accumulation and may predispose to defects in calcified tissues.

journal_name

Eur J Intern Med

journal_title

European journal of internal medicine

authors

Riancho-Zarrabeitia L,García-Unzueta M,Tenorio JA,Gómez-Gerique JA,Ruiz Pérez VL,Heath KE,Lapunzina P,Riancho JA

doi

10.1016/j.ejim.2015.12.019

subject

Has Abstract

pub_date

2016-04-01 00:00:00

pages

40-5

eissn

0953-6205

issn

1879-0828

pii

S0953-6205(15)00466-5

journal_volume

29

pub_type

杂志文章

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