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1.
Medicine (Baltimore) ; 100(3): e24276, 2021 Jan 22.
Artigo em Inglês | MEDLINE | ID: mdl-33546050

RESUMO

ABSTRACT: Pompe disease or glycogen storage disease type II is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme a-glucosidase. Although enzyme replacement therapy (ERT) with 2 weekly intervals following was considered an effective treatment for Pompe disease in 2006, few patients can afford to receive treatment in China because of the high cost. This study aimed to examine the standard management of enzyme replacement therapy for late-onset Pompe disease among patients over the age of 14 years from a nursing perspective in order to assess operating procedures. ERT injection fluid dispensing and infusion procedures using different methods were analyzed and compared in 3 patients with advanced Pompe disease for forming standard operation procedures. In addition, the impact of different methods on time consumption was analyzed by 1-way analysis of variance. There were significant differences in time consumption between different dispensing and infusion methods. The time of dispensing and infusing the injection fluids using the cooperative method was 15.97 minutes shorter than that using the conventional method (95% CI: 4.51-27.43, P = .012); the time using the modified method was 20.93 minutes shorter than that using the conventional method (95% CI: 9.47-32.39, P = .012); and there was no significant difference between the cooperative and modified methods (P = .431). Enzyme replacement therapy entails frequent treatment and strict nursing requirements related to the intravenous infusion process. In this context, a standard operating procedure can be used to control nursing times and labor costs effectively while ensuring a safe and effective infusion process.


Assuntos
Terapia de Reposição de Enzimas/enfermagem , Doença de Depósito de Glicogênio Tipo II/enfermagem , Padrões de Referência , Fatores de Tempo , Adolescente , China/epidemiologia , Terapia de Reposição de Enzimas/normas , Feminino , Doença de Depósito de Glicogênio Tipo II/epidemiologia , Humanos , Masculino
3.
J Clin Pediatr Dent ; 44(5): 348-351, 2020 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-33181846

RESUMO

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.


Assuntos
Hipofosfatasia , Fosfatase Alcalina , Animais , Terapia de Reposição de Enzimas , Humanos , Hipofosfatasia/tratamento farmacológico , Lactente , Masculino , Esfoliação de Dente , Dente Decíduo
4.
Nat Commun ; 11(1): 5339, 2020 10 21.
Artigo em Inglês | MEDLINE | ID: mdl-33087718

RESUMO

Propionic acidemia/aciduria (PA) is an ultra-rare, life-threatening, inherited metabolic disorder caused by deficiency of the mitochondrial enzyme, propionyl-CoA carboxylase (PCC) composed of six alpha (PCCA) and six beta (PCCB) subunits. We herein report an enzyme replacement approach to treat PA using a combination of two messenger RNAs (mRNAs) (dual mRNAs) encoding both human PCCA (hPCCA) and PCCB (hPCCB) encapsulated in biodegradable lipid nanoparticles (LNPs) to produce functional PCC enzyme in liver. In patient fibroblasts, dual mRNAs encoded proteins localize in mitochondria and produce higher PCC enzyme activity vs. single (PCCA or PCCB) mRNA alone. In a hypomorphic murine model of PA, dual mRNAs normalize ammonia similarly to carglumic acid, a drug approved in Europe for the treatment of hyperammonemia due to PA. Dual mRNAs additionally restore functional PCC enzyme in liver and thus reduce primary disease-associated toxins in a dose-dependent manner in long-term 3- and 6-month repeat-dose studies in PA mice. Dual mRNAs are well-tolerated in these studies with no adverse findings. These studies demonstrate the potential of mRNA technology to chronically administer multiple mRNAs to produce large complex enzymes, with applicability to other genetic disorders.


Assuntos
Terapia de Reposição de Enzimas/métodos , Acidemia Propiônica/terapia , RNA Mensageiro/uso terapêutico , Animais , Modelos Animais de Doenças , Glutamatos/uso terapêutico , Humanos , Cinética , Lipídeos/química , Fígado/enzimologia , Metilmalonil-CoA Descarboxilase/química , Metilmalonil-CoA Descarboxilase/genética , Metilmalonil-CoA Descarboxilase/metabolismo , Camundongos , Camundongos Knockout , Camundongos Transgênicos , Mitocôndrias/enzimologia , Nanopartículas/administração & dosagem , Nanopartículas/química , Acidemia Propiônica/genética , Acidemia Propiônica/metabolismo , Subunidades Proteicas/química , Subunidades Proteicas/genética , RNA Mensageiro/administração & dosagem , RNA Mensageiro/genética
5.
Rev Prat ; 70(5): 537-540, 2020 May.
Artigo em Francês | MEDLINE | ID: mdl-33058644

RESUMO

Fabry disease. Fabry disease is an X-linked disorder in which lysosomal alpha-galactosidase A is lacking, leading to enzyme-substrate accumulation and tissues dysfunction. Acroparesthesia, angiokeratoma, familial nephropathy or hypertrophic cardiomyopathy should suggest Fabry disease. Enzymatic assay allows diagnosis in men but genetic assay is needed for women. Enzyme replacement therapy is available since 2001 and a pharmacologic chaperone since 2016.


Assuntos
Doença de Fabry , Nefrite Hereditária , Terapia de Reposição de Enzimas , Doença de Fabry/diagnóstico , Doença de Fabry/genética , Doença de Fabry/terapia , Feminino , Humanos , Masculino , alfa-Galactosidase/genética , alfa-Galactosidase/uso terapêutico
6.
Medicina (B Aires) ; 80(5): 487-494, 2020.
Artigo em Espanhol | MEDLINE | ID: mdl-33048793

RESUMO

Gaucher disease (GD) is caused by a genetic deficiency of the lysosomal enzyme glucocerebrosidase (GCase) leading to the accumulation of glucocerebroside in the liver, spleen, and bone marrow. The early diagnosis allows a prompt enzyme replacement therapy reversing cytopenias and visceromegaly and preventing irreversible bone lesions. Current diagnostic algorithms are based on well-recognized hematological manifestations. Although bone symptoms are present in 25-32% of the patients, they are not usually suspected as associated with Gaucher disease at clinical presentation. We designed an educational program aimed to give advice on the skeletal involvement in GD and a new diagnostic algorithm that considers bone symptoms to facilitate its early diagnosis (BIG project: Bone Involvement in Gaucher Disease). The study aims at describing the BIG project and the results of its application in our clinic in various cities in Argentina. Within the frame of this project, between March 2017 and December 2018, 38 dry blood spot samples from patients with bon e manifestations suspected of having GD were submitted to quantification of GCase activity. One sample did not meet the inclusion criteria. Deficient GCase activity was detected in three of the remaining 37 samples. The diagnosis of GD was confirmed in two girls who presented bone manifestations of 4 and 2 years of evolution, respectively, without hematological alterations. The third patient with low enzyme activity had normal leukocyte GCase. The two newly diagnosed cases of GD show the efficacy of our dual strategy aimed to facilitate the early diagnosis of this rare disease.


Assuntos
Doença de Gaucher/diagnóstico , Glucosilceramidase , Argentina , Diagnóstico Precoce , Terapia de Reposição de Enzimas , Feminino , Humanos
7.
J Biol Regul Homeost Agents ; 34(4 Suppl. 2): 107-119, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33000609

RESUMO

Lysosomal storage diseases (LSDs) include a heterogeneous group of rare, inborn, metabolic diseases characterized by deficiency of lysosomal enzymes or of other proteins involved in lysosomal function, leading to multi organ system substrates accumulation, with consequent multi systemic clinical presentation. Cardiac disease is particularly important in some group of LSDs as glycogen storage diseases (Pompe), mucopolysaccharidoses and in glycosphingolipidoses (Anderson-Fabry disease and less frequently Gaucher disease). Various cardiac manifestations may be observed including hypertrophic and dilated cardiomyopathy, coronary artery disease and valvular disease. The availability of enzyme replacement therapy (ERT) has changed the natural history of some LSDs such as Pompe disease, thanks to the significant effects on cardiological involvement. In other LSDs such as MPSs or Fabry disease, ERT has been shown to stabilize or slow the progression of heart damage. This imposes the need for a timely diagnosis that allows a rapid onset of ERT.


Assuntos
Doença de Fabry , Cardiopatias , Doenças por Armazenamento dos Lisossomos , Terapia de Reposição de Enzimas , Doença de Fabry/complicações , Doença de Fabry/diagnóstico , Doença de Fabry/tratamento farmacológico , Cardiopatias/etiologia , Humanos , Doenças por Armazenamento dos Lisossomos/diagnóstico , Doenças por Armazenamento dos Lisossomos/tratamento farmacológico
8.
Ideggyogy Sz ; 73(9-10): 339-344, 2020 Sep 30.
Artigo em Húngaro | MEDLINE | ID: mdl-33035415

RESUMO

Pompe disease is a rare lysosomal storage disease inherited in a recessive manner resulting muscular dystrophy. Due to the lack of the enzyme alpha glucosidase, glycogen accumulates in the cells. In the infantile form of Pompe disease hypotonia and severe cardio-respiratory failure are common leading to death within 2 years if left untreated, while the late-onset form is characterized with limb-girdle and axial muscle weakness accompanied with respiratory dysfunction. Pompe disease has been treated with regular intake of the missing enzyme since 2006, which significantly improved the survival and severity of symptoms in patients of both subtypes. The enzyme replacement therapy (ERT) is safe and well tolerated. However, limited data are available on its use in pregnancy. Our goal is to share our experience and review the literature on the safety of enzyme replacement therapy for Pompe disease during pregnancy and post partum.


Assuntos
Terapia de Reposição de Enzimas/efeitos adversos , Doença de Depósito de Glicogênio Tipo II/terapia , Complicações na Gravidez/terapia , alfa-Glucosidases/uso terapêutico , Feminino , Doença de Depósito de Glicogênio Tipo II/diagnóstico , Humanos , Debilidade Muscular/etiologia , Período Pós-Parto , Gravidez , Resultado da Gravidez , Resultado do Tratamento
9.
Medicine (Baltimore) ; 99(39): e22326, 2020 Sep 25.
Artigo em Inglês | MEDLINE | ID: mdl-32991443

RESUMO

RATIONALE: The most common cardiac involvement of Fabry disease (FD) is left ventricular hypertrophy (LVH), which usually occurs in male patients over the age of 30. In rare cases, it can progress to ventricular dilation in the late stage of the disease. PATIENT CONCERNS: A 16-year-old boy presenting with recurrent extremity pain and chest distress was admitted to our hospital. Imaging examinations revealed ventricular dilation. DIAGNOSIS: α-Galactosidase A enzyme assay and GLA gene sequencing confirmed the diagnosis of FD and revealed a novel mutation c.76_77insT. INTERVENTIONS: The patient was treated using metoprolol (23.75 mg qd) and angiotensin-converting enzyme inhibitor (fosinopril sodium 5 mg qd). He refused enzyme replacement therapy for financial reasons. OUTCOMES: The echocardiography, electrocardiography, renal function, and routine blood and urine tests performed 20 months after the patients discharge from hospital showed no significant changes. The patient reported a slow and gradual decrease in the frequency and degree of pain and chest distress, starting approximately 24 months after discharge. LESSONS: Cardiac involvement of FD can progress rapidly in some cases. Screening for FD should be considered in patients with unexplained ventricular dilation, especially in those with a history of typical FD manifestations.


Assuntos
Dilatação Patológica/diagnóstico por imagem , Doença de Fabry/complicações , Doença de Fabry/genética , Hipertrofia Ventricular Esquerda/etiologia , alfa-Galactosidase/genética , Adolescente , Assistência ao Convalescente , Inibidores da Enzima Conversora de Angiotensina/uso terapêutico , Ecocardiografia/métodos , Eletrocardiografia/métodos , Terapia de Reposição de Enzimas/economia , Doença de Fabry/tratamento farmacológico , Fosinopril/uso terapêutico , Humanos , Hipertrofia Ventricular Esquerda/diagnóstico por imagem , Imagem por Ressonância Magnética/métodos , Masculino , Metoprolol/uso terapêutico , Mutação , Simpatolíticos/uso terapêutico , Resultado do Tratamento
10.
Artigo em Inglês | MEDLINE | ID: mdl-32927819

RESUMO

BACKGROUND: Case reports are usually excluded from systematic reviews. Patients with rare diseases are more dependent on novel individualized strategies than patients with common diseases. We reviewed and summarized the novelties reported by case reports in mucopolysaccharidosis type II (MPS-II) patients treated with enzyme replacement therapy (ERT). METHODS: We selected the case reports included in a previous meta-analysis of patients with MPS-II treated with ERT. Later clinical studies evaluating the same topic of those case reports were reported. Our primary aim was to summarize novelties reported in previous case reports. Secondary objectives analyzed the number of novelties evaluated in subsequent clinical studies and the time elapsed between the publication of the case report to the publication of the clinical study. RESULTS: We identified 11 innovative proposals in case reports that had not been previously considered in clinical studies. Only two (18.2%) were analyzed in subsequent nonrandomized cohort studies. The other nine novelties (81.8%) were analyzed in later case reports (five) or were not included in ulterior studies (four) after more than five years from their first publication. CONCLUSIONS: Case reports should be included in systematic reviews of rare disease to obtain a comprehensive summary of the state of research and offer valuable information for healthcare practitioners.


Assuntos
Terapia de Reposição de Enzimas/métodos , Mucopolissacaridose II/tratamento farmacológico , Objetivos , Humanos , Doenças Raras
13.
Cochrane Database Syst Rev ; 8: CD008227, 2020 08 05.
Artigo em Inglês | MEDLINE | ID: mdl-32761612

RESUMO

BACKGROUND: Most people with cystic fibrosis (CF) (80% to 90%) need pancreatic enzyme replacement therapy (PERT) to prevent malnutrition. Enzyme preparations need to be taken whenever food is taken, and the dose needs to be adjusted according to the food consumed. A systematic review on the efficacy and safety of PERT is needed to guide clinical practice, as there is variability between centres with respect to assessment of pancreatic function, time of commencing treatment, dose and choice of supplements. This is an updated version of a published review. OBJECTIVES: To evaluate the efficacy and safety of PERT in children and adults with CF and to compare the efficacy and safety of different formulations of PERT and their appropriateness in different age groups. Also, to compare the effects of PERT in CF according to different diagnostic subgroups (e.g. different ages at introduction of therapy and different categories of pancreatic function). SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register comprising references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings. Most recent search: 07 November 2019. We also searched an ongoing trials website and the websites of the pharmaceutical companies who manufacture pancreatic enzyme replacements for any additional trials. Most recent search: 26 December 2019. SELECTION CRITERIA: Randomised and quasi-randomised controlled trials in people of any age, with CF and receiving PERT, at any dosage and in any formulation, for a period of not less than four weeks, compared to placebo or other PERT preparations. DATA COLLECTION AND ANALYSIS: Two authors independently assessed trials and extracted outcome data. They also assessed the risk of bias and quality of the evidence (GRADE) of the trials included in the review. MAIN RESULTS: 14 trials were included in the review (641 children and adults with CF), two of these were parallel trials and 12 were cross-over trials. Interventions included different enteric and non-enteric-coated preparations of varying formulations in comparison to each other. The number of participants in each trial varied between 14 and 129. 13 trials were for a duration of four weeks and one trial lasted seven weeks. The majority of the trials had an unclear risk of bias from the randomisation process as the details of this were not given; they also had a high risk of attrition bias and reporting bias. The quality of the evidence ranged from moderate to very low. We mostly could not combine data from the trials as they compared different formulations and the findings from individual trials provided insufficient evidence to determine the size and precision of the effects of different formulations. AUTHORS' CONCLUSIONS: There is limited evidence of benefit from enteric-coated microspheres when compared to non-enteric coated pancreatic enzyme preparations up to one month. In the only comparison where we could combine any data, the fact that these were cross-over trials is likely to underestimate the level of inconsistency between the results of the trials due to over-inflation of CIs from the individual trials.There is no evidence on the long-term effectiveness and risks associated with PERT. There is also no evidence on the relative dosages of enzymes needed for people with different levels of severity of pancreatic insufficiency, optimum time to start treatment and variations based on differences in meals and meal sizes. There is a need for a properly designed trial that can answer these questions.


Assuntos
Fibrose Cística/terapia , Terapia de Reposição de Enzimas/normas , Dor Abdominal/epidemiologia , Adulto , Fatores Etários , Cápsulas/administração & dosagem , Criança , Preparações de Ação Retardada , Terapia de Reposição de Enzimas/efeitos adversos , Fármacos Gastrointestinais/uso terapêutico , Humanos , Microesferas , Estado Nutricional , Pâncreas/enzimologia , Ensaios Clínicos Controlados Aleatórios como Assunto , Ganho de Peso
14.
Rev. Hosp. El Cruce ; (26): 28-36, Ago 2020.
Artigo em Espanhol | LILACS, BINACIS, UNISALUD | ID: biblio-1117090

RESUMO

La enfermedad de Fabry es una patología por depósito lisosomal causada por mutaciones en el gen GLA que resulta en la deficiencia de alfa galactosidasa A. Dentro de las complicaciones tardías más comunes se encuentra la insuficiencia renal terminal. Por medio de una revisión bibliográfica en la base PUBMed se busca evidenciar si el trasplante renal representa una opción terapéutica indiscutible para el tratamiento de la nefropatía de Fabry. Hallazgos demuestran la posibilidad de la terapia de reemplazo enzimático que permite proteger al sistema cardiovascular y nervioso del daño progresivo por acumulo lisosomal.


Fabry disease is a lysosomal storage disorder caused by mutations in the GLA gene that results in alpha galactosidase A deficiency. One of the most common late complications is end stage renal disease. Through a bibliographic review in the PUBMed database, we seek to demonstrate whether kidney transplantation represents an indisputable therapeutic option for the treatment of Fabry nephropathy. Findings demonstratethepossibility of enzymereplacementtherapythatprotects the cardiovascular and nervoussystemfromprogressivedamagebylysosomalaccumulation.


Assuntos
Transplante de Rim , Doença de Fabry , Terapia de Reposição de Enzimas
17.
Ann Allergy Asthma Immunol ; 125(4): 460-467, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32687987

RESUMO

BACKGROUND: Intravenous recombinant enzyme replacement therapy (ERT) is currently available for 8 lysosomal diseases. Hypersensitivity reactions (HSRs) may be observed during this long-term treatment. OBJECTIVE: To evaluate the frequency and clinical treatment features of ERT HSRs and the management of desensitizations in children. METHODS: Medical records were reviewed retrospectively for patients who received ERT. Those who had experienced HSRs to ERT were included in the study. The demographic characteristics of the patients, culprit enzyme, signs and symptoms, diagnostic tests, management of the reaction, and the protocol employed for the maintenance of ERT were recorded. RESULTS: During the study period, 54 patients received ERT in our institution. A total of 11 patients (20.4%) experienced HSR to ERT. All reactions were of immediate type. The most common symptoms were cutaneous manifestations. A total of 9 patients experienced urticaria, and 2 had anaphylaxis as initial reaction. Patients who had isolated cutaneous symptoms continued their treatments with antihistamines, corticosteroid premedication, slower infusion rate or both. Patients who had recurrent urticaria with these modalities or those who had anaphylaxis continued their ERT with desensitization (n = 8). A total of 3 patients required revisions in desensitization protocols because of recurrent anaphylaxis. CONCLUSION: The reactions that develop during this long-term treatment may be treated by premedication-prolonged infusion, but in some patients, desensitization protocols are necessary for the continuation of therapy. Revisions in desensitization protocols may be required.


Assuntos
Dessensibilização Imunológica/métodos , Hipersensibilidade a Drogas/etiologia , Hipersensibilidade a Drogas/imunologia , Terapia de Reposição de Enzimas/efeitos adversos , Doenças por Armazenamento dos Lisossomos/tratamento farmacológico , Criança , Feminino , Humanos , Masculino , Estudos Retrospectivos
18.
Blood Cells Mol Dis ; 85: 102478, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32688219

RESUMO

OBJECTIVE: An analysis of the SARS-CoV-2 pandemic impact in the Spanish Gaucher Disease (GD) community is presented here. PATIENTS & METHODS: The Spanish GD foundation (FEETEF) surveyed 113 GD patients from March 30 to April 27; all patients provided a verbal consent. RESULTS: 110 surveys were analyzed. The median age was 47 years old (y.o.), 31 patients were ≥ 60 y.o.; and 34% of patients reported comorbidities. 46% (51/110) of patients were treated by enzyme replacement therapy (ERT), 48 of them at hospitals; 45.1% (45/110) were on substrate reduction therapy (SRT) and 9% (10/110) receive no therapy. 25% (11/48) of ERT-hospital-based patients reported therapy interruptions, while SRT-patients did not report missing doses. No bone crises were reported. However, 50% (55/110) of patients reported being worried about their predisposition to a severe SARS-COV-2 infection and 29% (16/55) of them took anxiolytics or antidepressants for this. While 6 patients reported to have contact with an infected person, another two confirmed SARS-CoV-2 infections were reported in splenectomyzed patients, one of them (a 79-year-old diabetic) died. CONCLUSIONS: One quarter of the patients treated at hospitals reported dose interruptions. Home-based therapy may need to be considered in order to minimize the impact of the COVID-19 pandemic.


Assuntos
Betacoronavirus , Continuidade da Assistência ao Paciente , Infecções por Coronavirus , Terapia de Reposição de Enzimas , Doença de Gaucher/tratamento farmacológico , Glucosilceramidase/uso terapêutico , Serviços Hospitalares de Assistência Domiciliar , Pandemias , Pneumonia Viral , Adulto , Idoso , Ansiolíticos/uso terapêutico , Antidepressivos/uso terapêutico , Ansiedade/tratamento farmacológico , Ansiedade/etiologia , Terapia Combinada , Comorbidade , Depressão/tratamento farmacológico , Depressão/etiologia , Diabetes Mellitus/epidemiologia , Suscetibilidade a Doenças , Terapia de Reposição de Enzimas/métodos , Feminino , Doença de Gaucher/psicologia , Doença de Gaucher/cirurgia , Glucosilceramidase/provisão & distribução , Humanos , Hospedeiro Imunocomprometido , Masculino , Pessoa de Meia-Idade , Espanha/epidemiologia , Esplenectomia/efeitos adversos , Adulto Jovem
19.
Neurology ; 95(6): e718-e732, 2020 08 11.
Artigo em Inglês | MEDLINE | ID: mdl-32518148

RESUMO

OBJECTIVE: To characterize the extent of CNS involvement in children with Pompe disease using brain MRI and developmental assessments. METHODS: The study included 14 children (ages 6-18 years) with infantile Pompe disease (IPD) (n = 12) or late-onset Pompe disease (LOPD) (n = 2) receiving enzyme replacement therapy. White matter (WM) hyperintense foci seen in the brain MRIs were systematically quantified using the Fazekas scale (FS) grading system with a novel approach: the individual FS scores from 10 anatomical areas were summed to yield a total FS score (range absent [0] to severe [30]) for each child. The FS scores were compared to developmental assessments of cognition and language obtained during the same time period. RESULTS: Mild to severe WM hyperintense foci were seen in 10/12 children with IPD (median age 10.6 years) with total FS scores ranging from 2 to 23. Periventricular, subcortical, and deep WM were involved. WM hyperintense foci were seen throughout the path of the corticospinal tracts in the brain in children with IPD. Two children with IPD had no WM hyperintense foci. Children with IPD had relative weaknesses in processing speed, fluid reasoning, visual perception, and receptive vocabulary. The 2 children with LOPD had no WM hyperintense foci, and high scores on most developmental assessments. CONCLUSION: This study systematically characterized WM hyperintense foci in children with IPD, which could serve as a benchmark for longitudinal follow-up of WM abnormalities in patients with Pompe disease and other known neurodegenerative disorders or leukodystrophies in children.


Assuntos
Encefalopatias Metabólicas Congênitas/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Deficiências do Desenvolvimento/diagnóstico por imagem , Doença de Depósito de Glicogênio Tipo II/diagnóstico por imagem , Imagem por Ressonância Magnética , Neuroimagem , Adolescente , Idade de Início , Encéfalo/patologia , Encefalopatias Metabólicas Congênitas/etiologia , Criança , Transtornos Cognitivos/diagnóstico por imagem , Transtornos Cognitivos/etiologia , Estudos Transversais , Deficiências do Desenvolvimento/etiologia , Terapia de Reposição de Enzimas , Glucana 1,4-alfa-Glucosidase/uso terapêutico , Doença de Depósito de Glicogênio Tipo II/complicações , Doença de Depósito de Glicogênio Tipo II/tratamento farmacológico , Doença de Depósito de Glicogênio Tipo II/psicologia , Humanos , Transtornos da Linguagem/diagnóstico por imagem , Transtornos da Linguagem/etiologia , Imagem por Ressonância Magnética/métodos , Neuroimagem/métodos , Substância Branca/diagnóstico por imagem
20.
Ter Arkh ; 92(1): 30-35, 2020 Jan 15.
Artigo em Russo | MEDLINE | ID: mdl-32598660

RESUMO

AIM: The goal is to evaluate the effectiveness of pancreatic enzyme replacement therapy (PERT) using microencapsulated pancreatin preparations for the correction of nutritional status in patients with chronic pancreatitis (CP) and associated exocrine pancreatic insufficiency (EPI). MATERIALS AND METHODS: The study included 58 patients with CP who were divided into two groups depending on the results of a laboratory assessment of indicators of nutritional status: group I (n=30) consisted of patients with CP and signs of EPI (according to low elastase test values) without deviations in nutritional status; Group II (n=28) consisted of patients with CP with a EPI and an abnormal nutritional status. In both groups, patients during the entire observation period (8-12 months) received PERT using microencapsulated pancreatin preparations at a dose adjusted for the severity of permanent residence permit. Before and after the PERT course, the dynamics of anthropometric [body weight, body mass index (BMI)] and laboratory indicators of nutritional status (total protein, albumin, vitamins D and B12, transferrin, iron and magnesium) were evaluated. RESULTS: After the completion of PERT, a significant tendency towards an increase in BMI in patients was noted in both groups. In group I, this indicator increased from 21.45 [95% confidence interval (CI) 19.80-23.92] kg/m2 to 22.15 (95% CI 20.31-23.86) kg/m2, and in II group - from 19.22 (95% CI 18.33-21.99) kg/m2 to 22.0 (95% CI 19.97-24.08) kg/m2. At the same time, the duration of PERT (months) significantly correlated with the dynamics of the patient's body weight (r=0.4679; 95% CI 0.2384-0.6479, p=0.0002). When assessing laboratory markers of nutritional status after PERT, a general tendency was found to increase the levels of total protein, albumin, vitamin D, magnesium, transferrin, and iron in both groups, however, statistically significant differences in the dynamics were observed mainly in group II patients. So, the level of total protein in group II increased from 69.05 (95% CI 65.6717-70.9000) g/l to 72.8 (95% CI 71.1358-74.9000) g/l, vitamin D - from 10.6 (95% CI 32.8397-38.9603) ng/ml to 17.1 (95% CI 12.0166-23.6232) ng/ml, magnesium - from 0.72 ( 95% CI 0.6892-0.7825) mmol/L to 0.795 (95% CI 0.7692-0.8800) mmol/L, and transferrin from 2.91 (95% CI 2.1800-3.3656 ) g/l to 2.92 (95% CI 2.4000-3.5200) g/l. CONCLUSION: A prospective observational study demonstrated the effectiveness of PERT using microencapsulated pancreatin preparations in the correction of nutritional status in patients with CP.


Assuntos
Insuficiência Pancreática Exócrina/tratamento farmacológico , Pancreatite Crônica/tratamento farmacológico , Terapia de Reposição de Enzimas , Humanos , Estado Nutricional , Pancreatina/uso terapêutico
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