Hypophosphatasia: Validation and expansion of the clinical nosology for children from 25years experience with 173 pediatric patients

Whyte, Michael P.; Zhang, Fan; Wenkert, Deborah; McAlister, William H.; Mack, Karen; Benigno, Marci C.; Coburn, Stephen P.; Wagy, Susan; Griffin, Donna; Ericson, Karen L.; Mumm, Steven

doi:10.1016/j.bone.2015.02.022

Cited by 216 publications

(256 citation statements)

References 40 publications

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“…The study began as a 6-month assessment of 6-to 12-year-old, Tanner stage ≤2 survivors of infantile hypophosphatasia or patients with childhood hypophosphatasia (16). Those who completed this initial study entered an extension phase (Figure 1).…”

Section: Methodsmentioning

confidence: 99%

Asfotase alfa therapy for children with hypophosphatasia

Whyte¹,

Madson²,

Phillips³

et al. 2016

JCI Insight

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113

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Section: Methodsmentioning

confidence: 99%

Asfotase alfa therapy for children with hypophosphatasia

Whyte¹,

Madson²,

Phillips³

et al. 2016

JCI Insight

Self Cite

136

113

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“…O ur patients were ultimately diagnosed with odonto type and no treatments were performed by the attending pediatricians. Mild forms of hypophosphatasia, such as odonto type, are thought to occur most often, with a frequency of 37% reported [9]. Although no medical approaches for cases with odonto type have been reported, affected patients may develop possible problems in the jaw bones.…”

Section: Discussionmentioning

confidence: 99%

Report of Two Dental Patients Diagnosed with Hypophosphatasia

Okawa

Kitaoka²,

Saga³

et al. 2016

J Clin Case Rep

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Hypophosphatasia is a rare inherited skeletal disorder characterized by defective bone mineralization and tissue non-specific alkaline phosphatase (TNSALP) deficiency, with mutations in the gene encoding the TNSALP isozyme the cause. As for dental manifestations, premature loss of primary teeth due to disturbed cementum formation is well known and tooth roots in affected patients are not able to adequately attach to absorbed alveolar bone due to malformed cementum. We report spontaneous early exfoliation along with mild to severe mobility of primary anterior teeth in 2 child patients referred to pediatric dentists from a general dental practitioner. Case 1 was a 1-year-7-month-old boy with 3 mandibular incisors exfoliated, while Case 2 was a 3-year-3-month-old girl with 1 mandibular central incisor exfoliated. The possibility of hypophosphatasia was considered and the patients were referred to the Pediatric Clinic of Osaka University Medical Hospital, where each was diagnosed with hypophosphatasia (odonto type). We performed repeated periodontal treatments and applied removable partial dentures in both cases, which solved esthetic and functional problems. Although the incidence is quite low, it is important to diagnose hypophosphatasia as early as possible for planning general and dental preventive approaches. In patients with mild forms, such as odonto and childhood types, early exfoliation of primary teeth identified in a dental examination can occasionally lead to early diagnosis of hypophosphatasia. In addition, dental findings obtained by a dentist are useful to identify patients with a risk of hypophosphatasia, who can then be immediately referred to a pediatrician for more detailed systemic examinations. Thus, a cooperative relationship between pediatricians and pediatric dentists should be regarded as necessary. This is the first known report to describe cases of hypophosphatasia diagnosed after referral from a pediatric dentist because of typical dental findings for the disorder.

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“…HPP prevalence was reported in 1957 to be around 1:100,000 live births for the severe forms [4]. Recently, estimates of 1:300,000 have been reported for Europe [1].…”

Section: Introductionmentioning

confidence: 99%

Improvement of Bone and Dental Phenotype of Murine Hypophosphatasia Mediated by a Single Injection of Lentiviral Gene Therapy

Yamamoto-Nemoto¹,

Ogawa²,

Yokoi³

et al. 2017

OJST

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Background: Alkaline phosphatase has 4 isozymes, tissue non-specific alkaline phosphatase (TNAP), placental alkaline phosphatase (PLAP), intestinal alkaline phosphatase and germ-cell alkaline phosphatase. Hypophosphatasia (HPP) is an inherited skeletal disease caused by mutations of the gene encoding TNAP. Although TNAP is expressed in various tissues, the primary HPP symptoms appear in bones and teeth. The clinical severity of HPP varies widely from the most severe (perinatal, infantile and childhood) to the mildest forms (adult, and odonto-hypophosphatasia). We reported that gene therapy using a single injection of lentiviral vector expressing bone-targeted TNAP (TNAP-D 10 ) is effective in preventing all the skeletal of HPP in TNAP knockout (Alpl −/− ) mice as the model of infantile HPP. Objective: In this study we focus on evaluating the efficacy of treatment with gene therapy on the bone and teeth using TNAP-D 10 and also we investigate the feasibility of gene therapy using bone-targeted PLAP (PLAP-D 10 ). Methods and Findings: We used

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Hypophosphatasia: Validation and expansion of the clinical nosology for children from 25years experience with 173 pediatric patients

Cited by 216 publications

References 40 publications

Asfotase alfa therapy for children with hypophosphatasia

Asfotase alfa therapy for children with hypophosphatasia

Report of Two Dental Patients Diagnosed with Hypophosphatasia

Improvement of Bone and Dental Phenotype of Murine Hypophosphatasia Mediated by a Single Injection of Lentiviral Gene Therapy

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