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1.
Pediatr Transplant ; 23(4): e13399, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30884056

RESUMO

Food allergies often develop after liver transplant, especially in young children. However, data are scarce on clinical characteristics and patient outcomes. When we evaluated our pediatric liver transplant patients over a 16-year period, food allergy incidence was 8% (19/236 patients). All patients with food allergies were <18 months old, with incidence in this age group of 19.2% (19/99). Two patients had a single food and 17 had multiple food allergies. Five patients showed only non-IgE-mediated food allergies. Eggs, milk, nuts, and wheat were the most common allergens. Presenting symptoms included diarrhea, flushing, angioedema attacks, wheezing/chronic cough, and vomiting. Seven patients had EBV, and two patients had CMV infections at time of food allergy diagnosis. Twelve patients had eosinophilia. Seven patients (36.8%) were able to regain tolerance to all food allergens. However, one patient with single nut allergy and three with multiple food allergies were still on allergen-eliminated diets. Eight patients with multiple food allergies gained tolerance to some of the food allergens. In conclusion, food allergies in our patients were mainly against multiple foods and IgE mediated. Infections like EBV and CMV may play a role in food allergies after liver transplant, especially in pretransplant-naive patients.

2.
Exp Clin Transplant ; 17(Suppl 1): 226-229, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30777561

RESUMO

Hemophagocytic lymphohistiocytosis is a rare and life-threatening systemic disease that can cause hepatic infiltration and present as acute liver failure. Here, we report a case of a 3-year-old pediatric patient who presented with acute liver failure and hepatic encephalopathy secondary to hemophagocytic lymphohistiocytosis. She had left lateral segment liver transplant from her father. After 27 months, she had bone marrow transplant from her sister. At the time of reporting (36 months after liver transplant), she showed normal liver function and blood peripheral counts. We found that liver transplant can be a curative treatment for this type of rare disorder, not only to improve the quality of life but also to prolong survival.


Assuntos
Transplante de Medula Óssea , Encefalopatia Hepática/cirurgia , Falência Hepática Aguda/cirurgia , Transplante de Fígado , Linfo-Histiocitose Hemofagocítica/cirurgia , Exame de Medula Óssea , Transplante de Medula Óssea/métodos , Pré-Escolar , Feminino , Encefalopatia Hepática/diagnóstico , Encefalopatia Hepática/etiologia , Humanos , Falência Hepática Aguda/diagnóstico , Falência Hepática Aguda/etiologia , Testes de Função Hepática , Transplante de Fígado/métodos , Doadores Vivos , Linfo-Histiocitose Hemofagocítica/complicações , Linfo-Histiocitose Hemofagocítica/diagnóstico , Resultado do Tratamento
3.
Fetal Pediatr Pathol ; : 1-6, 2018 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-30260719

RESUMO

INTRODUCTION: Crigler Najjar (CN) disease is a genetic disorder which results in increased unconjugated bilirubin level. Liver parenchyma was previously considered structurally normal. Recent reports describe significant fibrosis in the liver parenchyma of patients with CN syndrome. CASE REPORT: We present a patient with persistent unconjugated hyperbilirubinemia, clinically diagnosed as CN-2, with a UGT1 A1 p. H39D (c.115C > G) (His → Asp) mutation. She required hepatic transplantation at the age of 17.5 years for biliary cirrhosis. Explanted liver histopathology revealed regenerative cirrhotic nodules with dilated bile ducts filled with bile plugs. CONCLUSION: CN can develop significant hepatic fibrosis/cirrhosis requiring liver transplantation.

4.
J Pediatr Genet ; 7(3): 117-121, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30105119

RESUMO

We present a patient with failure to thrive and severe hypotonia, who was initially suspected of having a neurometabolic disease but later diagnosed as Shwachman-Diamond syndrome (SDS), which was genetically confirmed. SDS is a multisystemic disease, which is characterized by exocrine pancreatic deficiency, bone marrow dysfunction with increased risk for malignant transformation, and skeletal abnormalities. It should be included in differential diagnosis of patients with failure to thrive and unexplained neurodevelopmental delay with neutropenia.

5.
Turk J Gastroenterol ; 29(3): 354-360, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29755021

RESUMO

BACKGROUND/AIMS: We evaluated our 16-year single-center experience of pediatric post-transplant lymphoproliferative disorder (PTLD) cases who underwent liver transplantation between 2001 and 2017. MATERIALS AND METHODS: Of the 236 pediatric patients who underwent liver transplantation between 2001 and 2017, the clinical and laboratory data of eight patients diagnosed with PTLD were reviewed. The pre-transplant Epstein-Barr virus (EBV) status of 172 patients was also recorded. RESULTS: The total incidence of PTLD was 3.4%. The incidence of PTLD was 10% in pre-transplant EBV immunoglobulin G (IgG)-seronegative patients and 0.8% in pre-transplant EBV IgG-seropositive patients. The mean age of the patients at liver transplantation was 2.71±3.21 years, and four patients were aged below 1 year at the time of transplantation. PTLD was diagnosed at 21.81±18.1 months after transplantation. The primary site of involvement was variable among patients: peripheral and mediastinal lymph nodes, stomach and intestine, transplanted graft, bone marrow, and nasopharynx. The eosinophil count varied greatly among patients, with a mean value of 524.62±679/mm3. Three patients had a food allergy and were administered an elimination diet at the time of PTLD diagnosis. Six patients had PTLD of B-cell origin. One patient died due to neutropenic sepsis during chemotherapy, whereas seven patients were followed up in full remission for 7.75±4 years. CONCLUSION: PTLD is a life-threatening complication of solid-organ transplantation with a heterogeneous clinical spectrum. Food allergy had a close association with PTLD. A close follow-up of patients with risk factors and an early diagnosis with appropriate treatment may lead to a better outcome.


Assuntos
Hipersensibilidade Alimentar/epidemiologia , Transplante de Fígado/efeitos adversos , Transtornos Linfoproliferativos/epidemiologia , Complicações Pós-Operatórias/epidemiologia , Criança , Pré-Escolar , Eosinófilos , Infecções por Vírus Epstein-Barr/sangue , Infecções por Vírus Epstein-Barr/complicações , Infecções por Vírus Epstein-Barr/epidemiologia , Feminino , Seguimentos , Hipersensibilidade Alimentar/etiologia , Hipersensibilidade Alimentar/virologia , Herpesvirus Humano 4 , Humanos , Incidência , Lactente , Contagem de Leucócitos , Transtornos Linfoproliferativos/etiologia , Transtornos Linfoproliferativos/virologia , Masculino , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/virologia , Período Pós-Operatório , Período Pré-Operatório , Fatores de Risco
6.
Gastroenterology ; 155(1): 130-143.e15, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29604290

RESUMO

BACKGROUND & AIMS: Congenital diarrheal disorders are rare inherited intestinal disorders characterized by intractable, sometimes life-threatening, diarrhea and nutrient malabsorption; some have been associated with mutations in diacylglycerol-acyltransferase 1 (DGAT1), which catalyzes formation of triacylglycerol from diacylglycerol and acyl-CoA. We investigated the mechanisms by which DGAT1 deficiency contributes to intestinal failure using patient-derived organoids. METHODS: We collected blood samples from 10 patients, from 6 unrelated pedigrees, who presented with early-onset severe diarrhea and/or vomiting, hypoalbuminemia, and/or (fatal) protein-losing enteropathy with intestinal failure; we performed next-generation sequencing analysis of DNA from 8 patients. Organoids were generated from duodenal biopsies from 3 patients and 3 healthy individuals (controls). Caco-2 cells and patient-derived dermal fibroblasts were transfected or transduced with vectors that express full-length or mutant forms of DGAT1 or full-length DGAT2. We performed CRISPR/Cas9-guided disruption of DGAT1 in control intestinal organoids. Cells and organoids were analyzed by immunoblot, immunofluorescence, flow cytometry, chromatography, quantitative real-time polymerase chain reaction, and for the activity of caspases 3 and 7. RESULTS: In the 10 patients, we identified 5 bi-allelic loss-of-function mutations in DGAT1. In patient-derived fibroblasts and organoids, the mutations reduced expression of DGAT1 protein and altered triacylglycerol metabolism, resulting in decreased lipid droplet formation after oleic acid addition. Expression of full-length DGAT2 in patient-derived fibroblasts restored formation of lipid droplets. Organoids derived from patients with DGAT1 mutations were more susceptible to lipid-induced cell death than control organoids. CONCLUSIONS: We identified a large cohort of patients with congenital diarrheal disorders with mutations in DGAT1 that reduced expression of its product; dermal fibroblasts and intestinal organoids derived from these patients had altered lipid metabolism and were susceptible to lipid-induced cell death. Expression of full-length wildtype DGAT1 or DGAT2 restored normal lipid metabolism in these cells. These findings indicate the importance of DGAT1 in fat metabolism and lipotoxicity in the intestinal epithelium. A fat-free diet might serve as the first line of therapy for patients with reduced DGAT1 expression. It is important to identify genetic variants associated with congenital diarrheal disorders for proper diagnosis and selection of treatment strategies.


Assuntos
Diacilglicerol O-Aciltransferase/genética , Duodeno/metabolismo , Fibroblastos/metabolismo , Hipoalbuminemia/genética , Transtornos do Metabolismo dos Lipídeos/genética , Organoides/metabolismo , Enteropatias Perdedoras de Proteínas/genética , Células CACO-2 , Estudos de Casos e Controles , Caspase 3/metabolismo , Caspase 7/metabolismo , Criança , Pré-Escolar , Consanguinidade , Derme/citologia , Diacilglicerol O-Aciltransferase/deficiência , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Países Baixos , Forbóis , Reação em Cadeia da Polimerase em Tempo Real , Análise de Sequência de DNA , Turquia
7.
J Pediatr Hematol Oncol ; 39(8): 626-628, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28816798

RESUMO

In this report we describe a patient with neonatal cholestasis who was found to have a liver lesion with suspicious imaging features, although ultimately it was histologically proved to be a pseudotumor. We discuss the characteristic features and imaging findings of macroregenerative nodules of the liver.


Assuntos
Colestase/diagnóstico , Neoplasias Hepáticas/diagnóstico , Fígado/patologia , Biópsia , Colestase/etiologia , Colestase/terapia , Evolução Fatal , Feminino , Humanos , Imuno-Histoquímica , Lactente , Testes de Função Hepática , Neoplasias Hepáticas/complicações , Transplante de Fígado , Imagem por Ressonância Magnética/métodos , Ultrassonografia
9.
N Engl J Med ; 377(1): 52-61, 2017 07 06.
Artigo em Inglês | MEDLINE | ID: mdl-28657829

RESUMO

BACKGROUND: Studies of monogenic gastrointestinal diseases have revealed molecular pathways critical to gut homeostasis and enabled the development of targeted therapies. METHODS: We studied 11 patients with abdominal pain and diarrhea caused by early-onset protein-losing enteropathy with primary intestinal lymphangiectasia, edema due to hypoproteinemia, malabsorption, and less frequently, bowel inflammation, recurrent infections, and angiopathic thromboembolic disease; the disorder followed an autosomal recessive pattern of inheritance. Whole-exome sequencing was performed to identify gene variants. We evaluated the function of CD55 in patients' cells, which we confirmed by means of exogenous induction of expression of CD55. RESULTS: We identified homozygous loss-of-function mutations in the gene encoding CD55 (decay-accelerating factor), which lead to loss of protein expression. Patients' T lymphocytes showed increased complement activation causing surface deposition of complement and the generation of soluble C5a. Costimulatory function and cytokine modulation by CD55 were defective. Genetic reconstitution of CD55 or treatment with a complement-inhibitory therapeutic antibody reversed abnormal complement activation. CONCLUSIONS: CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy (the CHAPLE syndrome) is caused by abnormal complement activation due to biallelic loss-of-function mutations in CD55. (Funded by the National Institute of Allergy and Infectious Diseases and others.).


Assuntos
Antígenos CD55/genética , Ativação do Complemento/genética , Proteínas do Sistema Complemento/metabolismo , Mutação , Enteropatias Perdedoras de Proteínas/genética , Trombose/genética , Antígenos CD55/sangue , Criança , Pré-Escolar , Ativação do Complemento/efeitos dos fármacos , Inativadores do Complemento/farmacologia , Feminino , Homozigoto , Humanos , Imunoglobulina A/sangue , Lactente , Intestino Delgado/patologia , Masculino , Linhagem , Enteropatias Perdedoras de Proteínas/complicações , Estatísticas não Paramétricas , Síndrome , Linfócitos T/metabolismo
10.
Turk J Gastroenterol ; 27(5): 450-457, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27782894

RESUMO

BACKGROUND/AIMS: Our aim was to determine the etiologies, outcomes, and prognostic indicators in children with acute liver failure. MATERIALS AND METHODS: Ninety-one patients who were followed for pediatric acute liver failure (PALF) over a 15-year period were included. Patients who survived with supportive therapy were designated as Group 1, while those who died or underwent liver transplantation were designated as Group 2. RESULTS: There were 37 (40.6%) patients in Group 1 (spontaneous recovery) and 54 (59.4%) patients in Group 2. Thirty-two patients (35.2%) underwent liver transplantation. Infectious and indeterminate causes were the most common etiologies (33% each). Among the infectious causes, hepatitis A (76%) was the most frequent. Hepatic encephalopathy grade 3-4 on admission and during follow-up and high Pediatric Risk of Mortality (PRISM) and Pediatric End-Stage Liver Disease (PELD) scores within the first 24 h were related with a poor prognosis. Group 2 had a more prolonged prothrombin time, higher international normalized ratio, more prolonged activated partial thromboplastin time (aPTT), and higher levels of total and direct bilirubin, ammonia, and lactate (for all, p<0.01). CONCLUSION: Infectious and indeterminate cases constituted the most common etiology of PALF, and the etiology was related to the prognosis in our series. Although high PELD and PRISM scores were related to poor prognoses, no sharp thresholds for individual laboratory tests could be elucidated. Liver transplantation was the only curative treatment for patients with poor prognoses and resulted in high survival rates (1-, 5-, and 10-year survival rates of 81.3%, 81.3%, and 75%, respectively) in our study.


Assuntos
Falência Hepática Aguda/etiologia , Falência Hepática Aguda/mortalidade , Transplante de Fígado/mortalidade , Adolescente , Amônia/análise , Bilirrubina/análise , Testes de Coagulação Sanguínea , Criança , Pré-Escolar , Feminino , Hepatite A/complicações , Humanos , Lactente , Recém-Nascido , Ácido Láctico/análise , Falência Hepática Aguda/cirurgia , Masculino , Prognóstico , Índice de Gravidade de Doença , Taxa de Sobrevida , Turquia
11.
Exp Clin Transplant ; 13 Suppl 3: 126-30, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26640932

RESUMO

Urea cycle defects are a group of metabolic disorders caused by enzymatic disruption of the urea cycle pathway, transforming nitrogen to urea for excretion from the body. Severe cases present in early infancy with life-threatening metabolic decompensation, and these episodes of hyperammonemia can be fatal or result in permanent neurologic damage. Despite the progress in pharmacologic treatment, long-term survival is poor especially for severe cases. Liver transplant is an alternative treatment option, providing sufficient enzymatic activity and decreasing the risk of metabolic decompensation. Three patients with urea cycle defects received related living-donor liver transplants at our hospital. Patients presented with late-onset ornithine transcarbamylase deficiency, argininosuccinate lyase deficiency, and citrullinemia. Maximum pretransplant ammonia levels were between 232 and 400 µmol/L (normal range is 18-72 µmol/L), and maximum posttransplant values were 52 to 94 µmol/L. All patients stopped medical treatment and dietary protein restriction for urea cycle defects after transplant. The patient with late-onset ornithine transcarbamylase deficiency already had motor deficits related to recurrent hyperammonemia attacks pretransplant. A major improvement could not be achieved, and he is wheelchair dependent at the age of 6 years. The other 2 patients had normal motor and mental skills before transplant, which have continued 12 and 14 months after transplant. Hepatic artery thrombosis in the patient with the ornithine transcarbamylase deficiency, intraabdominal infection in the patient with argininosuccinate lyase deficiency, and posterior reversible encephalopathy syndrome in the patient with citrullinemia were early postoperative complications. Histopathologic changes in livers explanted from patients with ornithine transcarbamylase deficiency and citrullinemia were nonspecific. The argininosuccinate lyase-deficient patient had portoportal fibrosis and cirrhotic nodule formation. In conclusion, liver transplant was a lifesaving procedure for our patients. Proper timing for transplant is important because high ammonia levels may result in permanent neurologic damage; however, transplant at younger ages also may increase morbidity.


Assuntos
Acidúria Argininossuccínica/cirurgia , Citrulinemia/cirurgia , Transplante de Fígado/métodos , Doadores Vivos , Doença da Deficiência de Ornitina Carbomoiltransferase/cirurgia , Acidúria Argininossuccínica/diagnóstico , Acidúria Argininossuccínica/genética , Criança , Citrulinemia/diagnóstico , Citrulinemia/genética , Pai , Feminino , Humanos , Lactente , Masculino , Mães , Doença da Deficiência de Ornitina Carbomoiltransferase/diagnóstico , Doença da Deficiência de Ornitina Carbomoiltransferase/genética , Resultado do Tratamento
12.
Turk J Gastroenterol ; 23(2): 127-34, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-22706740

RESUMO

BACKGROUND/AIMS: We aimed to determine the causes, demographic findings, clinical status, outcomes, and prognostic risk factors of patients with acute liver failure admitted to Hacettepe University Children's Hospital between October 1987-October 2006. METHODS: This retrospective case study included 74 patients with acute liver failure according to the Pediatric Acute Liver Failure Study Group definition. RESULTS: The etiology of acute liver failure was metabolic in 26 (35.1%) and infectious in 21 (28.4%) patients. Sixteen (21.6%) patients had indeterminate causes. Wilson's disease (16/26 patients, 61.5%) was the most frequent metabolic disease, while hepatitis A (14/21 patients, 66.7%) was the most frequent infectious agent. Neurologic functions were normal in 21 (28.4%) patients. Forty-nine (66.2%) patients died and 24 (32.4%) recovered. Two patients underwent liver transplantation. The mortality rate was 82.9% for patients who were not transplanted but fulfilled King's College Hospital criteria and 45.4% for patients who were not suitable for transplantation. This difference was statistically significant (p=0.001). Total bilirubin >5.35 mg/dl, international normalized ratio (INR) >3.66 and prothrombin time >23.5 seconds were shown to be the risk factors to predict death. CONCLUSIONS: Metabolic and infectious etiologies were responsible for most of the acute liver failure cases. Clinical encephalopathy may not be present in children.


Assuntos
Falência Hepática Aguda/etiologia , Falência Hepática Aguda/mortalidade , Adolescente , Ascite/epidemiologia , Ascite/etiologia , Bilirrubina/análise , Criança , Pré-Escolar , Edema/epidemiologia , Edema/etiologia , Hemorragia Gastrointestinal/epidemiologia , Hepatite A/complicações , Hepatite A/epidemiologia , Degeneração Hepatolenticular/complicações , Degeneração Hepatolenticular/epidemiologia , Hepatomegalia/epidemiologia , Hepatomegalia/etiologia , Hospitais Pediátricos , Humanos , Lactente , Recém-Nascido , Coeficiente Internacional Normatizado , Icterícia/epidemiologia , Icterícia/etiologia , Falência Hepática Aguda/cirurgia , Transplante de Fígado/estatística & dados numéricos , Tempo de Protrombina , Estudos Retrospectivos , Fatores de Risco , Esplenomegalia/epidemiologia , Esplenomegalia/etiologia , Turquia/epidemiologia
13.
Turk J Pediatr ; 54(5): 465-73, 2012 Sep-Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23427508

RESUMO

We document herein the prevalence and serotype distribution among Salmonella enterica strains isolated from children treated for diarrhea over two seven-year periods spanning 14 years. Four hundred and eight (1.38%) S. enterica cases were isolated among 29,601 diarrheal admissions. Among the Salmonella isolates, 63.7% were serogroup D and 29.9% were serogroup B. Overall, 21.7% of cases were under one year of age, with 2.1% being younger than three months. Bloody diarrhea was found in 18.8% of the cases. The resistance rates were 25.8%, 18.2%, 7.0%, 4.7%, and 0.3%, to ampicillin, chloramphenicol, trimethoprim-sulfamethoxazole, ceftriaxone, and ciprofloxacin, respectively. In conclusion, our study has revealed that the predominance of Salmonella serogroup D continues. The clinical features of our patients were mostly mild, with no deaths or severe complications. While resistance to antimicrobial agents changes constantly, it is important to keep these strains under surveillance in order to formulate policies for the rational use of antimicrobial agents.


Assuntos
Antibacterianos/uso terapêutico , Anticorpos Antibacterianos/análise , Gastroenterite/epidemiologia , Intoxicação Alimentar por Salmonella/epidemiologia , Salmonella/isolamento & purificação , Adolescente , Criança , Pré-Escolar , Seguimentos , Gastroenterite/tratamento farmacológico , Gastroenterite/microbiologia , Humanos , Lactente , Recém-Nascido , Testes de Sensibilidade Microbiana , Prevalência , Estudos Retrospectivos , Salmonella/imunologia , Intoxicação Alimentar por Salmonella/tratamento farmacológico , Intoxicação Alimentar por Salmonella/microbiologia , Sorotipagem , Turquia/epidemiologia
14.
Am J Gastroenterol ; 106(8): 1512-7, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21691340

RESUMO

OBJECTIVES: Epidemiological studies of celiac disease (CD) in Turkey have been performed only within some regions of the country. The aim of this study was to determine the prevalence of CD in Turkish school children. METHODS: Between 2006 and 2008, serum samples were collected from 20,190 students (age range, 6-17 years) in 139 schools in 62 cities from different regions of Turkey. CD was screened using IgA antitissue transglutaminase (IgA-tTG) and total serum IgA. Subjects with selective IgA deficiency were further tested for IgG-tTG. Serum samples positive for IgA or IgG-tTG were further tested for IgA antiendomysial antibodies (IgA-EMAs) using an indirect immunofluorescence method. Small-intestinal biopsy was offered to all subjects with tTG antibody positivity. RESULTS: Of the 20,190 subjects, 489 were antibody positive (IgA-tTG only in 270, both IgA-tTG and IgA-EMA in 215, and IgG-tTG in 4). Selective IgA deficiency was detected in 108 patients, and 4 of them were positive for IgG-tTG. An intestinal biopsy was conducted in 215 subjects (IgA-tTG positive in 110, IgA-tTG and IgA-EMA positive in 104, and IgG-tTG positive in 1). The biopsy findings of 95 children were consistent with CD. Thus, the estimated biopsy-proven prevalence was 1:212 children. The positive predictive value (PPV) for IgA-tTG plus EMA was 75.9%. PPV was 44.3% when only IgA-tTG was used. CONCLUSIONS: We estimate that the prevalence of CD is at least 0.47% in healthy Turkish school children. Screening for IgA-tTG plus EMA provided better results for diagnosis when compared with testing for IgA-tTG alone.


Assuntos
Anticorpos/sangue , Doença Celíaca/diagnóstico , Doença Celíaca/epidemiologia , Glutens/imunologia , Imunoglobulina A/imunologia , Programas de Rastreamento , Transglutaminases/imunologia , Dor Abdominal/etiologia , Adolescente , Autoanticorpos/sangue , Biomarcadores/sangue , Biópsia , Doença Celíaca/complicações , Doença Celíaca/imunologia , Doença Celíaca/patologia , Criança , Constipação Intestinal/etiologia , Diarreia/etiologia , Feminino , Técnica Indireta de Fluorescência para Anticorpo , Humanos , Imunoglobulina A/sangue , Intestino Delgado/metabolismo , Intestino Delgado/patologia , Masculino , Programas de Rastreamento/métodos , Valor Preditivo dos Testes , Prevalência , Sensibilidade e Especificidade , Turquia/epidemiologia
15.
Eur J Pediatr ; 169(11): 1375-8, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20585803

RESUMO

INTRODUCTION: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive multisystem disorder characterized by severe gastrointestinal dysmotility and leads to cachexia, ptosis, external ophthalmoplegia, peripheral neuropathy, and leukoencephalopathy. RESULTS AND DISCUSSION: It is often misdiagnosed as anorexia nervosa or intestinal pseudoobstuctions and are unnecessarily treated with surgery. It has been established that MNGIE is caused by mutations in the gene encoding thymidine phosphorylase, which lead to absolute or nearly complete loss of its catalytic activity, producing systemic accumulations of its substrates, thymidine and deoxyuridine. CONCLUSION: We present herein the clinical, neuroimaging, and molecular findings of a patient with MNGIE caused by a novel homozygous TYMP gene mutation (c.112G>T which convert codon 38 from glutamate to a stop codon [p.38E>X]).


Assuntos
DNA/genética , Mutação , Timidina Fosforilase/genética , Adolescente , Feminino , Predisposição Genética para Doença , Humanos , Pseudo-Obstrução Intestinal/diagnóstico , Pseudo-Obstrução Intestinal/genética , Pseudo-Obstrução Intestinal/metabolismo , Imagem por Ressonância Magnética , Encefalomiopatias Mitocondriais/diagnóstico , Encefalomiopatias Mitocondriais/genética , Encefalomiopatias Mitocondriais/metabolismo , Timidina Fosforilase/metabolismo
16.
J Pediatr Gastroenterol Nutr ; 51(4): 454-7, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20512058

RESUMO

OBJECTIVE: Octreotide has been suggested as a medical treatment option in refractory cases of primary intestinal lymphangiectasia (IL). There are few data about the long-term effect and safety of octreotide for IL in the literature. In the present article we analyzed pediatric cases of primary IL with long-term octreotide treatment and discussed its safety profile. METHODS: Between 1999 and 2008, 13 children were diagnosed in our clinic as having IL. Six patients with primary IL were followed up, receiving octreotide therapy. The clinical data of the patients and duration of therapy, dose, and side effects of octreotide were evaluated. RESULTS: Octreotide, 15 to 20 µg per body weight 2 times daily subcutaneously, was given to all of the patients. Duration of the octreotide treatment changed between 3 and 37 months. Stool frequency decreased in all of the patients after starting octreotide treatment. Serum albumin could be maintained at normal levels in 3 patients. The requirement of albumin infusions decreased in all of the patients. Acute pancreatitis was observed as a side effect of octreotide in 1 patient. CONCLUSIONS: Octreotide may help to maintain serum albumin levels, improve clinical findings, and decrease the requirement of albumin infusions in refractory cases of primary IL.


Assuntos
Fármacos Gastrointestinais/uso terapêutico , Octreotida/uso terapêutico , Pré-Escolar , Feminino , Fármacos Gastrointestinais/efeitos adversos , Fármacos Gastrointestinais/sangue , Humanos , Lactente , Linfangiectasia Intestinal/sangue , Linfangiectasia Intestinal/tratamento farmacológico , Linfedema/sangue , Linfedema/tratamento farmacológico , Masculino , Octreotida/efeitos adversos , Octreotida/sangue , Pancreatite/induzido quimicamente , Albumina Sérica/efeitos dos fármacos , Resultado do Tratamento
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