Oral findings in patient with lethal hypophosphatasia treated with enzyme replacement therapy

Okawa, Rena; Kokomoto, Kazuma; Yamamura-Miyazaki, Natsumi; Michigami, Toshimi; Nakano, Kazuhiko

doi:10.1016/j.pdj.2017.04.002

Cited by 10 publications

(14 citation statements)

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“…Patients diagnosed with severe-type HPP (perinatal severe or infantile types) generally die before the emergence of primary teeth in the oral cavity. Three years ago, the use of ERT was introduced in Japan, which drastically improved the prognosis of patients with HPP, including those with severe-type HPP [19–25], and increased the opportunities for these patients to receive dental management later, when necessary [26,27]. When we performed this same survey 5 years ago exploring the dental features of patients with HPP, there was little information regarding perinatal-severe type HPP 10 , even though this type of HPP accounted for 17% of the total number of patients with HPP in the present survey.…”

Section: Discussionmentioning

confidence: 99%

Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types

et al. 2019

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Hypophosphatasia (HPP) is a rare and intractable metabolic bone disease caused by mutations in the ALPL gene. Here, we undertook a nationwide survey of HPP in Japan, specifically regarding the prominent genetic and dental manifestations of odonto (n = 16 cases) and other (termed “non-odonto”) (n = 36 cases) types. Mean serum alkaline phosphatase (ALP) values in odonto-type patients were significantly greater than those of non-odonto-type patients (P<0.05). Autosomal dominant and autosomal recessive inheritance patterns were detected, respectively, in 89% of odonto-type and 96% of non-odonto-type patients. The ALPL “c.1559delT” mutation, associated with extremely low ALP activity, was found in approximately 70% of cases. Regarding dental manifestations, all patients classified as odonto-type showed early exfoliation of the primary teeth significantly more frequently than patients classified as non-odonto-type (100% vs. 56%; P<0.05). Tooth hypomineralisation was detected in 42% of non-odonto-type patients, but not in any odonto-type patients (0%; P<0.05). Collectively, these results suggest that genetic and dental manifestations of patients with odonto-type and non-odonto-type HPP are significantly different, and these differences should be considered during clinical treatment of patients with HPP.

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Section: Discussionmentioning

confidence: 99%

Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types

et al. 2019

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“…However, the prognosis of severe HPP is greatly improved by ERT, and oral management is important for patients’ quality of life. Severe HPP is sometimes accompanied by severe dental problems 25 – 27 . Quantitative evaluation methods are needed to properly diagnose dental symptoms when patients may receive orthodontic treatment and implants in the future.…”

Section: Discussionmentioning

confidence: 99%

“…The main dental symptom of HPP is early exfoliation of primary teeth caused by the hypomineralization of cementum 8 – 13 . Since the establishment of ERT in recent years, patients with severe HPP who did not survive until they were old enough to adapt to cooperative dental management are now able to visit dentists for dental treatment 25 , 26 . In addition to hypomineralization of cementum, many dental manifestations are detected as the patients age, such as hypomineralization of enamel and dentin, thin alveolar bone, malalignment, and occlusal problems 27 .…”

Section: Introductionmentioning

confidence: 99%

Evaluation of alveolar bone hypomineralization in pediatric hypophosphatasia using orthopantomography

Okawa

Nakamoto

Matayoshi

et al. 2022

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Hypophosphatasia (HPP) is a metabolic disease characterized by impaired bone mineralization and early exfoliation of primary teeth. This study was performed to develop a method for quantitatively evaluating alveolar bone hypomineralization using orthopantomographic images. Alveolar bone density was defined according to the pixel values and corrected by brightness shown by an indicator applied to the orthopantomographic device. Images of 200 healthy subjects (aged 2–15 years) were classified into five age groups. The corrected pixel values were significantly lower in the younger group than in those aged 14–15 years (2–4, 5–7, and 8–10 years versus 14–15 years: P < 0.0001, 11–13 years versus 14–15 years: P < 0.01). Orthopantomographic images of 17 patients with HPP were evaluated. The corrected pixel values of three-fourths of the patients with odonto type HPP were lower than the mean values of the healthy group. One-third of patients treated with enzyme replacement therapy showed higher corrected pixel values than the healthy group. Our results suggest that odonto type HPP without skeletal problems is occasionally accompanied by hypomineralization of alveolar bone and that alveolar bone hypomineralization in patients with severe HPP is possibly improved by enzyme replacement therapy.

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“…In Japan, that therapy was introduced in 2015, earlier than other countries [ 15 , 16 ]. A few studies have reported regarding the dental effects of ERT [ 17 , 18 ], though those were case reports with focus on only primary teeth. In the present study, we examined the dental effects of ERT in a case of childhood-type hypophosphatasia, including panoramic radiography findings to estimate dental age of permanent teeth.…”

Section: Introductionmentioning

confidence: 99%

Dental effects of enzyme replacement therapy in case of childhood-type hypophosphatasia

2021

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Background Hypophosphatasia (HPP), a skeletal disease characterized by hypomineralization of bone and teeth, is caused by an ALPL gene mutation that leads to low activity of the tissue non-specific alkaline phosphatase enzyme. Although enzyme replacement therapy (ERT) was recently introduced for affected patients, no known studies have been reported regarding its dental effects related to permanent teeth and jaw bones. In the present study, we examined the dental effects of ERT in a case of childhood-type hypophosphatasia, including panoramic radiography findings used to estimate the dental age of permanent teeth and mandibular bone density. Furthermore, the effects of that therapy on the periodontal condition of the patient were evaluated by comparing periodontal pocket depth before and after initiation. Case presentation An 11-year-1-month-old boy was referred to our clinic for consultation regarding oral management. Two primary incisors had spontaneously exfoliated at 1 year 8 months old and he had been diagnosed with childhood-type HPP at the age of 2 years 2 months. Obvious symptoms were localized in the dental region at the time of diagnosis, though later extended to other parts of the body such as bone pain. ERT was started at 11 years 7 months of age, after which bone pain disappeared, and motor functions and activities of daily living improved. We estimated dental age based on tooth development stage. The age gap between chronological and dental ages was expanded before treatment, and then showed a constant decrease after ERT initiation and finally disappeared. The index for mandibular bone density (mandibular cortical width / length from mesial buccal cusp to apex of first molar) was increased after ERT initiation. Furthermore, the periodontal condition for all teeth except those exfoliated was stable after starting therapy. Conclusions ERT resulted in improved tooth and mandibular bone mineralization, with notably good effects on teeth under formation. Acceleration of mineralization of roots associated with erupting teeth leads to stabilization of the periodontal condition. We concluded that ERT contributed to the improved dental condition seen in this patient.

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Oral findings in patient with lethal hypophosphatasia treated with enzyme replacement therapy

Cited by 10 publications

References 10 publications

Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types

Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types

Evaluation of alveolar bone hypomineralization in pediatric hypophosphatasia using orthopantomography

Dental effects of enzyme replacement therapy in case of childhood-type hypophosphatasia

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