scholarly journals Enzyme replacement therapy for congenital hypophosphatasia allows for surgical treatment of related complex craniosynostosis: a case series

2015 ◽  
Vol 38 (5) ◽  
pp. E10 ◽  
Author(s):  
Libby Kosnik-Infinger ◽  
Craig Gendron ◽  
Christopher B. Gordon ◽  
Brian S. Pan ◽  
John A. van Aalst ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Surgical Intervention ◽  
Bone Mineralization ◽  
Case Series ◽  
Cranial Vault ◽  
Loss Of Function ◽  
Neurological Outcomes ◽  
Enzyme Replacement ◽  
Cranial Vault Remodeling

Hypophosphatasia (HPP) is a rare inherited disorder of bone metabolism that results in the loss of function of the gene coding for tissue-nonspecific alkaline phosphatase (TNSALP). Patients with HPP have defective bone mineralization as well as craniosynostosis that can be seen in the infantile and childhood forms of this disease. Traditionally, HPP has had a poor prognosis, with few children surviving to exhibit the phenotype of clinical craniosynostosis that requires surgical intervention. Here, the authors report on new advancements in enzyme replacement therapy (ERT) for children affected by HPP, allowing these patients to survive and undergo surgery to address complex craniosynostosis. The authors discuss their case series of 4 HPP patients treated at their institution with ERT who have undergone successful surgical intervention for craniosynostosis. These children had no complications related to their surgeries and exhibited decreased neurological symptoms following cranial vault remodeling. This study reveals that ERT administered either pre- or post- operatively paired with cranial vault remodeling strategies can yield improved neurological outcomes in children affected by HPP.

scholarly journals Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Sebile Kılavuz ◽  
Sibel Basaran ◽  
Deniz Kor ◽  
Fatma Derya Bulut ◽  
Sevcan Erdem ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Clinical Data ◽  
Treatment Initiation ◽  
Case Series ◽  
Enzyme Replacement ◽  
Morquio A ◽  
Over Time ◽  
Morquio A Syndrome

Abstract Background This case series includes longitudinal clinical data of ten patients with Morquio A syndrome from south and southeastern parts of Turkey, which were retrospectively collected from medical records. All patients received enzyme replacement therapy (ERT). Clinical data collected included physical appearance, anthropometric data, neurological and psychological examinations, cardiovascular evaluation, pulmonary function tests, eye and ear-nose-throat examinations, endurance in the 6-min walk test and/or 3-min stair climb test, joint range of motion, and skeletal investigations (X-rays, bone mineral density). Results At the time of ERT initiation, two patients were infants (1.8 and 2.1 years), five were children (3.4–7.1 years), and three were adults (16.5–39.5 years). Patients had up to 4 years follow-up. Most patients had classical Morquio A, based on genotypic and phenotypic data. Endurance was considerably reduced in all patients, but remained relatively stable or increased over time in most cases after treatment initiation. Length/height fell below normal growth curves, except in the two infants who started ERT at ≤ 2.1 years of age. All patients had skeletal and/or joint abnormalities when ERT was started. Follow-up data did not suggest improvements in skeletal abnormalities, except in one of the younger infants. Nine patients had corneal clouding, which resolved after treatment initiation in the two infants, but not in the other patients. Hepatomegaly was reported in seven patients and resolved with treatment in five of them. Other frequent findings at treatment initiation were coarse facial features (N = 9), hearing loss (N = 6), and cardiac abnormalities (N = 6). Cardiac disease deteriorated over time in three patients, but did not progress in the others. Conclusions Overall, this case series with Morquio A patients confirms clinical trial data showing long-term stabilization of endurance after treatment initiation across ages and suggest that very early initiation of ERT optimizes growth outcomes.

scholarly journals Enzyme Replacement Therapy in Pregnant Women with Fabry Disease: A Case Series

2018 ◽  
pp. 77-81 ◽  
Author(s):  
Pehuén Fernández ◽  
Shunko Oscar Fernández ◽  
Jacqueline Griselda Mariela Gonzalez ◽  
Tabaré Fernández ◽  
Cinthia Claudia Fernández ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Pregnant Women ◽  
Fabry Disease ◽  
Replacement Therapy ◽  
Case Series ◽  
Enzyme Replacement

scholarly journals Pulmonary outcome measures in long‐term survivors of infantile Pompe disease on enzyme replacement therapy: A case series

2020 ◽  
Vol 55 (3) ◽  
pp. 674-681
Author(s):  
Mai K. ElMallah ◽  
Ankit K. Desai ◽  
Erica B. Nading ◽  
Stephanie DeArmey ◽  
Richard M. Kravitz ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Outcome Measures ◽  
Pompe Disease ◽  
Case Series ◽  
Enzyme Replacement ◽  
Infantile Pompe Disease ◽  
Long Term Survivors

scholarly journals Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series

2014 ◽  
Vol 37 (5) ◽  
pp. 823-829 ◽  
Author(s):  
Christina Lampe ◽  
Ann-Kathrin Bosserhoff ◽  
Barbara K. Burton ◽  
Roberto Giugliani ◽  
Carolina F. de Souza ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Case Series ◽  
Severe Phenotype ◽  
Enzyme Replacement ◽  
Mps Ii ◽  
Long Term Experience

scholarly journals Unsolved diagnostic issues of hypophosphatasia: Expert Council

2021 ◽  
Vol 5 (9) ◽  
pp. 605-614
Author(s):  
E.Yu. Zakharova ◽  
◽  
T.V. Varlamova ◽  
S.V. Voronin ◽  
N.Yu. Vlasenko ◽  
...  
Keyword(s):  
Alkaline Phosphatase ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Disease Onset ◽  
Clinical Signs ◽  
Orphan Diseases ◽  
Loss Of Function ◽  
Enzyme Replacement ◽  
Mild Disease ◽  
Fundamental Factor

Hypophosphatasia (HPP) is a rare hereditary metabolic disease resulting from the loss-of-function mutation in the ALPL gene encoding tissue-nonspecific alkaline phosphatase (ALP). Clinical presentations are polymorphic and manifest themselves differently depending on the age of disease onset and severity. The occurrence of mild disease, including adult HPP, is challenging to assess due to the high heterogeneity of clinical signs and a lower diagnosis rate. Doctors’ awareness of HPP is the fundamental factor affecting its detection rate. This paper reviews the conclusions of the Expert Council on HPP diagnosis and potentialities to improve diagnosis. Ten experts from various Russian regions participated in panel sessions. Each member shared the experience and established practice on the diagnosis of orphan diseases in his/her region and gave suggestions to optimize the diagnostic approach to HPP. The result was the development of a management algorithm and routing of patients from identifying symptoms to decision making on prescribing enzyme-replacement therapy and subsequent follow-up at every level of medical care . KEYWORDS: hypophosphatasia, alkaline phosphatase, orphan diseases, ALPL, enzyme-replacement therapy, routing. FOR CITATION: Zakharova E.Yu., Varlamova T.V., Voronin S.V. et al. Unsolved diagnostic issues of hypophosphatasia: Expert Council. Russian Medical Inquiry. 2021;5(9):605–614 (in Russ.). DOI: 10.32364/2587-6821-2021-5-9-605-614.

scholarly journals Brief Clinical Report: Hypophosphatasia—Diagnostic Considerations and Treatment Outcomes in an Infant

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Sara Duffus ◽  
Bradly Thrasher ◽  
Ali S. Calikoglu
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Linear Growth ◽  
Serum Alkaline Phosphatase ◽  
Bone Mineralization ◽  
Clinical Manifestations ◽  
Clinical Report ◽  
Radiographic Findings ◽  
Enzyme Replacement ◽  
Metabolic Bone Disorder

Hypophosphatasia (HPP) is a rare, inherited metabolic bone disorder characterized by low serum alkaline phosphatase activity and impaired bone mineralization. Clinical manifestations and severity of symptoms vary widely in HPP, ranging from in utero death to isolated dental manifestations in adults. Treatment with enzyme replacement therapy has been reported to improve outcomes in perinatal, infantile, and childhood forms of HPP. Here, we present a case of a boy with poor linear growth, mild limb bowing, and radiographic rickets who was diagnosed with HPP before 6 months of age. Treatment with enzyme replacement therapy was initiated at 7 months of age, after which significant improvements in radiographic findings and linear growth were demonstrated. This case highlights several important challenges in the diagnosis, classification, and management of HPP.

scholarly journals Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series

2016 ◽  
Vol 7 ◽  
pp. 63-69 ◽  
Author(s):  
Hsiang-Yu Lin ◽  
Chih-Kuang Chuang ◽  
Chung-Hsing Wang ◽  
Yin-Hsiu Chien ◽  
Yu-Mei Wang ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Case Series ◽  
Enzyme Replacement ◽  
Mucopolysaccharidosis Vi

scholarly journals Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Can Ficicioglu ◽  
Dena R. Matalon ◽  
Nicole Luongo ◽  
Caitlin Menello ◽  
Tracy Kornafel ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Early Recognition ◽  
Diagnostic Delay ◽  
Case Series ◽  
Multisystem Disease ◽  
Enzyme Replacement ◽  
Body Regions ◽  
Morquio A ◽  
Mps Iva

Abstract Background Mucopolysaccharidosis (MPS) IVA, also known as Morquio A syndrome, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase. Early recognition, diagnosis, and treatment of this progressive, multisystem disease by enzyme replacement therapy (ERT) can lead to improved outcomes and reduced mortality. Methods This report documents the diagnostic journey and treatment with ERT of three siblings with MPS IVA. Clinical outcome measures included growth, endurance, imaging, cardiac, respiratory, ophthalmology, and laboratory evaluations. Results Three siblings, diagnosed at 14.7, 10.1, and 3.2 years of age, demonstrated clinical improvement with weekly infusions of 2.0 mg/kg elosulfase alfa (Vimizim®, BioMarin Pharmaceutical, Novato, CA, USA). Patient 1 (oldest sibling) and Patient 2 (middle sibling) experienced a diagnostic delay of 8 years 7 months and 4 years after symptom onset, respectively. All three patients demonstrated improvements in growth, 6-min walk distance, joint range of motion, and respiratory function after 30 months of ERT. The treatment was well tolerated without any adverse events. Conclusions This case series highlights the importance of early recognition of the clinical and imaging findings that are initially subtle in MPS IVA. Early treatment with ERT is necessary to slow irreversible disease progression and improve patient outcomes. The oldest sibling experienced improvements in mobility despite severe symptoms resulting from a late diagnosis. When evaluating patients with skeletal anomalies, imaging multiple body regions is recommended. When findings such as anterior beaking of vertebrae or bilateral femoral head dysplasia are present, MPS IVA should be included in the differential diagnosis. Newborn screening must be considered for early detection, accurate diagnosis, and initiation of treatment to reduce morbidity.

Sign in / Sign up

Export Citation Format

Share Document