Life-threatening hypophosphatasia (HPP): Results of up to two years bone-targeted Enzyme Replacement Therapy (ERT) in infants and young children

Bishop, Nick; Greenberg, Cheryl R.; Craig, Stanley; McGinn, Mairead; Simmons, Jill H.; Russell, William E.; Bauer, M.; Taylor, John W.; Salman, Nada; Hamdan, Mohamed A.; Bober, Michael B.; Moore, Jean; Lutz, Richard E.; Wenkert, Deborah; McAlister, William H.; Skrinar, Alison; Landy, Hal; Whyte, Michael P.

doi:10.1016/j.bone.2011.03.107

Cited by 2 publications

(1 citation statement)

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“…Although there is presently no approved medical treatment for the condition, enzyme replacement therapy may offer an effective treatment modality in the future 19 . Recently, bone‐targeted TNSALP has been used on a research basis in a number of severely affected infants as well as some older children with some promising provisional results 20,21 . Detailed trial results including dental outcomes have not yet been reported.…”

Section: Managementmentioning

confidence: 99%

Current concepts in hypophosphatasia: case report and literature review

Hollis

Arundel

High

et al. 2012

Int J Paed Dentistry

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BACKGROUND. Hypophosphatasia (HP) is characterized by defective mineralization of bone and teeth because of deficient alkaline phosphatase activity. There are generally six recognized clinical forms, of which the most severe is often lethal prenatally or early in life. In milder forms, such as odontohypophosphatasia (OHP), premature exfoliation of primary teeth may be the only clinical manifestation. CASE REPORT. A 20-month-old girl was referred to the Specialist Paediatric Salaried Dental Service within the Harrogate and District NHS Foundation Trust with mobility of tooth numbers 71 and 81. Clinical examination revealed grade III mobile 71 and 81, with minimal gingival inflammation and plaque deposits. There were no other dental findings and no significant medical history. Tooth numbers 71 and 81 exfoliated prematurely with no evidence of root resorption, shortly after presentation. Haematological and urinary investigations showed no abnormalities. Histological examination showed a complete absence of cementum. A diagnosis of OHP was made. After 10 months of dental follow-up, no further teeth have increased mobility. CONCLUSION. Odontohypophosphatasia should be included as a differential diagnosis in children presenting with early loss of primary teeth. The dentist may be the first health care professional to whom the patient presents.

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Section: Managementmentioning

confidence: 99%