Pediatr. praxi. 2023;24(5):299-303 | DOI: 10.36290/ped.2023.076

Hypophosphatasia and its differential diagnosis

doc. MUDr. Štěpán Kutílek, CSc.

Dětské oddělení a Osteocentrum Klatovské nemocnice, a. s., Klatovy

Hypophosphatasia (HPP) is a rare, inherited, metabolic disease characterized by disorders of calcium and phosphate metabolism, bone deformities, loss of teeth, recurrent fractures, growth retardation. HPP is caused by mutations of gene encoding tissue-non-specific alkaline phosphatase (TNSALP). Over 400 TNSALP mutations have been documented so far. The mutation results in TNSALP deficiency and leads to defective skeletal mineralization. There are six subtypes of HPP: Perinatal lethal HPP and Infantile HPP, both of which are lethal; Benign prenatal HPP, Childhood-onset HPP, Adult HPP and OdontoHPP with a better prognosis. Clinical manifestations of HPP are very diverse, ranging from severe skeletal deformities to asymptomatic course. It is essential to establish a proper diagnosis and distinguish from other skeletal disorders (rickets, osteogenesis imperfecta, osteopathy of prematurity, cleidocranial dysplasia, thanatoforic dysplasia, achondrogenesis/hypochondrogenesis, campomelic dysplasia, osteoporosis).

Keywords: alkaline phosphatase, bone, asfotase, hypophosphatasia.

Accepted: October 9, 2023; Published: October 13, 2023  Show citation