AHypophosphatasia is characterized by low serum alkaline phosphatase (ALP) activity and has a similar radiographic appearance
with rickets. There are considerable differences in the severity of the disease. The clinical course of this condition often
improves; although early death can occur in the infantile form of the disorder. We experienced one case with severe infantile
type of hypophosphatasia.
Hypophosphatasia (HPP) characterized by defective mineralization
of bone and dental tissue. The features of this
disease include diminished alkaline phosphatase (ALP) activity
and increased urinary excretion of Phosphorylethanolamine.
This inborn error of metabolism is a rare inherited form of rickets
or osteomalacia due to reduced activity of tissue-nonspecific
alkaline phosphatase (TNSALP) caused by loss-of-function
mutation within the TNSALP gene marked by low serum ALP. HPP is classified into different clinical types with a remarkable
range of severity.
Perinatal HPP is always fatal from profound skeletal hypomineralization. Infantile HPP presents before six months of age
with rickets, failure-to-thrive and hypercalcemia occasionally,
craniosynostosis or vitamin B6-responsive seizures as well as
respiratory failure associated with progressive chest deformity. Childhood HPP features rickets and loss of deciduous
teeth, hypoplasia and myopathy while adult HPP causes
osteomalacia.
Autosomal recessive inheritance accounts for severe HPP
while autosomal dominant or recessive transmission underlies
the mild form. TNSALP replacement therapy is an effective treatment of HPP in infants. The mortality rate of infantile
type is 50–100% and patients die due to respiratory infection.
We present a case of a 14-month-old girl with the clinical
manifestations of rickets, failure to thrive and developmental
delay. Hypercalcaemia and low alkaline phosphatase level
constitute the main diagnostic laboratory abnormalities if infantile
HPP. We aim to share experience.
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