Hypophosphatasia

Cole, David E. C.

doi:10.1016/b978-012286551-0/50029-4

Cited by 8 publications

(9 citation statements)

References 182 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In infants who survive, there is often spontaneous improvement in mineralization and remission of clinical problems, with the exception of craniosynostosis [ 7 ]. Short stature in adulthood and premature loss of deciduous teeth are also common, but the long-term outlook can be favorable [ 8 ].…”

Section: Clinical Descriptionmentioning

confidence: 99%

“…Although the only clinical feature is dental disease, biochemical findings are generally indistinguishable from those in patients with mild forms of hypophosphatasia (adult and childhood). Odontohypophosphatasia should be considered in any patient with a history of early unexplained loss of teeth or abnormally loose teeth on dental examination [ 8 ].…”

Section: Clinical Descriptionmentioning

confidence: 99%

See 1 more Smart Citation

Hypophosphatasia

Mornet

2007

Orphanet J Rare Dis

260

270

View full text Add to dashboard Cite

Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The prevalence of severe forms of the disease has been estimated at 1/100 000.The symptoms are highly variable in their clinical expression, which ranges from stillbirth without mineralized bone to early loss of teeth without bone symptoms. Depending on the age at diagnosis, six clinical forms are currently recognized: perinatal (lethal), perinatal benign, infantile, childhood, adult and odontohypophosphatasia. In the lethal perinatal form, the patients show markedly impaired mineralization in utero. In the prenatal benign form these symptoms are spontaneously improved. Clinical symptoms of the infantile form are respiratory complications, premature craniosynostosis, widespread demineralization and rachitic changes in the metaphyses. The childhood form is characterized by skeletal deformities, short stature, and waddling gait, and the adult form by stress fractures, thigh pain, chondrocalcinosis and marked osteoarthropathy. Odontohypophosphatasia is characterized by premature exfoliation of fully rooted primary teeth and/or severe dental caries, often not associated with abnormalities of the skeletal system. The disease is due to mutations in the liver/bone/kidney alkaline phosphatase gene (ALPL; OMIM# 171760) encoding the tissue-nonspecific alkaline phosphatase (TNAP). The diagnosis is based on laboratory assays and DNA sequencing of the ALPL gene. Serum alkaline phosphatase (AP) activity is markedly reduced in hypophosphatasia, while urinary phosphoethanolamine (PEA) is increased. By using sequencing, approximately 95% of mutations are detected in severe (perinatal and infantile) hypophosphatasia.Genetic counseling of the disease is complicated by the variable inheritance pattern (autosomal dominant or autosomal recessive), the existence of the uncommon prenatal benign form, and by incomplete penetrance of the trait. Prenatal assessment of severe hypophosphatasia by mutation analysis of chorionic villus DNA is possible. There is no curative treatment for hypophosphatasia, but symptomatic treatments such as non-steroidal anti-inflammatory drugs or teriparatide have been shown to be of benefit. Enzyme replacement therapy will be certainly the most promising challenge of the next few years.

show abstract

Section: Clinical Descriptionmentioning

confidence: 99%

Section: Clinical Descriptionmentioning

confidence: 99%

Hypophosphatasia

Mornet

2007

Orphanet J Rare Dis

260

270

View full text Add to dashboard Cite

show abstract

“…Hypophosphatasia (HP) is an inherited disorder characterized by defective bone and tooth mineralization. HP is due to mutations in the liver/bone/kidney alkaline phosphatase gene ( ALPL , MIM 171760) encoding the tissue-nonspecific alkaline phosphatase (TNAP) [ 1 , 2 ].…”

Section: Introductionmentioning

confidence: 99%

“…In infants who survive (50%), there is often spontaneous improvement in mineralization and remission of clinical problems. Short stature in adulthood and premature shed of deciduous teeth are also common [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Orodental phenotype and genotype findings in all subtypes of hypophosphatasia

Reibel

Manière

Clauss

et al. 2009

Orphanet J Rare Dis

104

View full text Add to dashboard Cite

This work allowed us to compare orodental manifestations in all the clinical forms of HP within the patient's sample. According to the severity of the disorder, some dental defects were infrequent, while other were always present. The long term prognosis of the permanent teeth varies from a patient to another. As premature loss of primary teeth is often the first, and sometimes the only visible symptom of the milder forms, the paediatric dentist plays a critical role in the detection and diagnosis of the disease.

show abstract

Disorders of Bone Metabolism

Holm¹

2005

Clinical Pediatric Endocrinology

View full text Add to dashboard Cite

Hypophosphatasia

Cited by 8 publications

References 182 publications

Hypophosphatasia

Hypophosphatasia

Orodental phenotype and genotype findings in all subtypes of hypophosphatasia

Disorders of Bone Metabolism

Contact Info

Product

Resources

About