Effects of Enzyme Replacement Therapy for Primary Teeth in a Patient with Infantile Hypophosphatasia

2020 ◽  
Vol 44 (5) ◽  
pp. 348-351
Author(s):  
Rena Okawa ◽  
Saaya Matayoshi ◽  
Rina Kariya ◽  
Yuko Ogaya ◽  
Ryota Nomura ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Primary Teeth ◽  
Alveolar Bone ◽  
Primary Molars ◽  
Enzyme Replacement ◽  
Tooth Mineralization ◽  
Old Japanese ◽  
Skeletal Disorder ◽  
Phosphatase Enzyme

Hypophosphatasia (HPP) is a skeletal disorder characterized by hypomineralization of bone, with early exfoliation of primary teeth. Alkaline phosphatase enzyme replacement therapy (ERT) has been shown to improve bone hypomineralization for patients with HPP, although its dental effects are unknown. A 20-month-old Japanese boy diagnosed with infantile HPP was referred to our clinic because of early exfoliation of primary teeth. The patient had been followed by a pediatrician since the age of 3 months, due to slow weight gain. At the age of 12 months, primary incisors showed sudden exfoliation; at the age of 19 months, a diagnosis of HPP was made based on bone and dental manifestations. ERT was initiated at the age of 21 months. The patient demonstrated stable periodontal conditions of primary molars that erupted after initiation of ERT, due to improved alveolar bone and tooth mineralization. Thus, ERT may improve both dental and systemic conditions.

scholarly journals Evaluation of Alveolar Bone Hypomineralization in Hypophosphatasia Patients Using Orthopantomography

2021 ◽  
Author(s):  
Rena Okawa ◽  
Takashi Nakamoto ◽  
Saaya Matayoshi ◽  
Kazuhiko Nakano ◽  
Naoya Kakimoto
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Primary Teeth ◽  
Alveolar Bone ◽  
Bone Mineralization ◽  
Age Groups ◽  
Mean Values ◽  
Healthy Group ◽  
Enzyme Replacement ◽  
The Mean

Abstract Hypophosphatasia (HPP) is a metabolic disease characterized by impaired bone mineralization and early exfoliation of primary teeth. The purpose of this study was 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 systemically 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 HPP patients were evaluated. The corrected pixel values of three-quarters of the odonto type HPP patients were lower than the mean values for 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 severe HPP patients is possibly improved by enzyme replacement therapy.

DIAGNOSTICS AND ENZYME REPLACEMENT THERAPY OF CHILDHOOD-ONSET HYPOPHOSPHATASIA IN A 5-YEAR-OLD BOY

2021 ◽  
Vol 100 (3) ◽  
pp. 289-294
Author(s):  
M.K. Soboleva ◽  
◽  
E.A. Maslova ◽  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Primary Teeth ◽  
Clinical Evidence ◽  
Correct Diagnosis ◽  
Pathological Process ◽  
Childhood Onset ◽  
Enzyme Replacement ◽  
Detection Of Mutations ◽  
Genetically Determined

The article presents a clinical case report of hypophosphatasia, a rare congenital genetically determined disease diagnosed in a boy at the age of 3 years and 6 months. The diagnostic search took more than 2 years before the correct diagnosis was made, which is explained by the rarity of the disease and the lack of doctors awareness about it. The pathology was suspected on the basis of a combination of clinical evidence and characteristic complaints (early loss of primary teeth with an unchanged root, rickets-like skeletal deformities, motility disorders) in combination with a pathologically low level of alkaline phosphatase. The detection of mutations characteristic of the disease in the ALPL gene in the boy, his mother and father made it possible to finally confirm the diagnosis. The patient received a 7-month course of enzyme replacement therapy with Asfotase alfa, which significantly slowed down the progression of the disease and was not accompanied by the development of side effects. A feature of the patient's disease is the involvement of the urinary system in the pathological process, which is manifested by hypercalciuria, nephrocalcinosis and decreased renal function.

Cardiac and motor improvement with enzyme replacement therapy in a patient with infantile-onset Pompe disease

2005 ◽  
Vol 36 (02) ◽  
Author(s):  
M Smitka ◽  
M von der Hagen ◽  
A Kaindl ◽  
C Gilitzer ◽  
J Dumontier ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Enzyme Replacement ◽  
Motor Improvement

RESPONSE TO ENZYME REPLACEMENT THERAPY IN PATIENTS WITH GAUCHER DISEASE TYPE I

2019 ◽  
Vol 22 (06) ◽  
pp. 103-117
Author(s):  
Mays Al-Tai ◽  
Deia Al-Asady ◽  
Rula Hamid
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Gaucher Disease ◽  
Disease Type ◽  
Type I ◽  
Enzyme Replacement

Two siblings with attenuated MPS II form: Long term enzyme replacement therapy

2021 ◽  
Vol 132 (2) ◽  
pp. S107-S108
Author(s):  
Nato Vashakmadze ◽  
Leyla Namazova-Baranova ◽  
Natalia Zhurkova ◽  
Olga Gordeeva ◽  
Nina Fedorova ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Enzyme Replacement ◽  
Mps Ii

scholarly journals Development of the “Hamburg Best Practice Guidelines for ICV−Enzyme Replacement therapy (ERT) in CLN2 Disease” Based on 6 Years Treatment Experience in 48 Patients

2021 ◽  
pp. 088307382198915
Author(s):  
Christoph Schwering ◽  
Gertrud Kammler ◽  
Eva Wibbeler ◽  
Martin Christner ◽  
Johannes K.-M. Knobloch ◽  
...  
Keyword(s):  
Patient Safety ◽  
Adverse Events ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Practice Guidelines ◽  
Best Practice ◽  
Vision Loss ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Enzyme Replacement ◽  
Best Practice Guidelines

Intracerebroventricular enzyme replacement therapy (ICV-ERT) for CLN2 disease represents the first approved treatment for neuronal ceroid lipofuscinosis (NCL) diseases. It is the first treatment where a recombinant lysosomal enzyme, cerliponase alfa, is administered into the lateral cerebral ventricles to reach the central nervous system, the organ affected in CLN2 disease. If untreated, CLN2 children show first symptoms such as epilepsy and language developmental delay at 2-4 years followed by rapid loss of motor and language function, vision loss, and early death. Treatment with cerliponase alfa has shown to slow the rapid neurologic decline. However, the mode of administration by 4 hour-long intracerebroventricular infusions every 14 days represents a potentially greater risk of infection compared to intravenous enzyme replacement therapies. The Hamburg NCL Specialty Clinic was the first site worldwide to perform intracerebroventricular enzyme replacement therapy in children with CLN2 disease. In order to ensure maximum patient safety, we analysed data from our center from more than 3000 intracerebroventricular enzyme replacement therapies in 48 patients over 6 years with regard to the occurrence of device-related adverse events and device infections. Since starting intracerebroventricular enzyme replacement therapy, we have also developed and continuously improved the “Hamburg Best Practice Guidelines for ICV–Enzyme Replacement Therapy (ERT) in CLN2 Disease.” Results from this study showed low rates for device-related adverse events and infections with 0.27% and 0.33%, respectively. Therefore, following our internal procedural guidelines has shown to improve standardization and patient safety of intracerebroventricular enzyme replacement therapy for CLN2 disease.

Description of a patient with infantile onset Pompe disease after 45 months of enzyme replacement therapy

2018 ◽  
Vol 123 (2) ◽  
pp. S124-S125
Author(s):  
Roberto Sandobal Pacheco ◽  
Diana Espinosa Villanueva ◽  
Adriana Alcnatara Salinas ◽  
Jorge A. Romero Ramirez ◽  
Jose Antonio Vasquez Galeana ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Enzyme Replacement
Sign in / Sign up

Export Citation Format

Share Document