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1.
Eur J Pediatr ; 176(12): 1669-1676, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28951965

RESUMEN

Niemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder with a great variation in clinical spectrum and age at presentation. Clinical features of 10 NPC patients who presented in the newborn period between 1993 and 2015 at our center were retrospectively analyzed. Males and females were equally distributed; there was a history of parental consanguinity (n = 8) and first-degree relative with NPC (n = 3). Patients were symptomatic between 1 and 10 days (mean 3.6 ± 2.6 days). Age at diagnosis was between 1 and 30 days (mean 14.6 ± 13.3 days). Laboratory work-up included bone marrow aspiration (n = 8) and/or filipin staining (n = 4). Confirmation was done by molecular analysis, indicating NPC1 (n = 8) and NPC2 (n = 2) mutations. All patients had neonatal cholestasis and hepatosplenomegaly. Pulmonary involvement (n = 9) and fetal ascites (n = 2) were additional accompanying features. All but one died due to pulmonary complications (n = 6) and liver insufficiency (n = 3) between 1.5 and 36 months of age (mean 8.1 ± 10.8 months). Currently, one patient is alive at the age of 11 months without any neurological deficit. CONCLUSIONS: Neonatal presentation is a rare form of NPC with exclusively visceral involvement in the newborn period and poor prognosis leading to premature death due to pulmonary complications and liver failure. What is known: • Neonatal presentation is a rare form of NPC with exclusively visceral involvement in the newborn period and poor prognosis leading to premature death. • Progressive liver disease is the most common cause of death among neonatal-onset NPC patients. What is new: • Natural course of neonatal-onset NPC may show variations. • Pulmonary involvement should be considered as an important cause of death in neonatal-onset cases, and appropriate precautions should be taken to prevent complications of respiratory insufficiency and airway infections.


Asunto(s)
Enfermedad de Niemann-Pick Tipo C/diagnóstico , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Fallo Hepático/etiología , Fallo Hepático/mortalidad , Enfermedades Pulmonares/etiología , Enfermedades Pulmonares/mortalidad , Masculino , Enfermedad de Niemann-Pick Tipo C/complicaciones , Enfermedad de Niemann-Pick Tipo C/mortalidad , Pronóstico , Estudios Retrospectivos
2.
J Pediatr Gastroenterol Nutr ; 59(5): 571-6, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25000351

RESUMEN

OBJECTIVES: Intractable diarrhea of infancy (IDI), a group of prolonged diarrheal disorders, is difficult to diagnose and manage. We documented general features of patients and the causes of IDI. METHODS: The present retrospective study included 60 hospitalized patients with IDI ages 0 to 24 months during January 2000 to December 2010. Detailed history, laboratory and endoscopic findings, diagnoses, and clinical courses were reviewed. Descriptive analyses were used for statistical evaluation. RESULTS: The male/female ratio was 1.4. The median age at onset of diarrhea was 12 days. A total of 70% and 11% of patients were severely and moderately malnourished, respectively. Carbohydrate malabsorption (CM) and food allergies (n = 11, 18% for both) were the most frequent causes. A total of 16 of the patients (27%) did not have a specific diagnosis. The other diagnoses were infections (n = 5), immune-mediated disorders (IMD) (n = 6), congenital enterocyte defects (CED) (n = 3, 5%), short bowel syndrome (n = 2), cystic fibrosis (n = 2), intestinal pseudoobstruction (n = 1), congenital disorder of glycosylation (n = 1), abetalipoproteinemia (n = 1), and proprotein convertase (PC) 1 deficiency (n = 1). Stool calprotectin level was high in 10 of 19 patients with Crohn disease (n = 3, mean 1116 ± 851 mg/L), food allergy (n = 4, mean 516 ± 288 mg/L), and undefined etiology (n = 3, mean 616 ± 780 mg/L). The mean duration of hospitalization was 76 days. CONCLUSIONS: IDI is a heterogeneous group of diarrheal disorders. The most frequent causes were CM and food allergies in our study. Because high levels of calprotectin support inflammation, calprotectin levels may help to discriminate CED and inflammatory causes of IDI.


Asunto(s)
Diarrea/etiología , Carbohidratos de la Dieta/metabolismo , Hipersensibilidad a los Alimentos/complicaciones , Inflamación/complicaciones , Síndromes de Malabsorción/complicaciones , Adolescente , Niño , Preescolar , Trastornos Congénitos de Glicosilación/complicaciones , Enfermedad de Crohn/complicaciones , Fibrosis Quística/complicaciones , Diarrea/metabolismo , Diarrea/patología , Enterocitos/patología , Femenino , Humanos , Lactante , Recién Nacido , Inflamación/metabolismo , Seudoobstrucción Intestinal/complicaciones , Tiempo de Internación , Complejo de Antígeno L1 de Leucocito/metabolismo , Masculino , Microvellosidades/patología , Mucolipidosis/complicaciones , Estudios Retrospectivos , Síndrome del Intestino Corto/complicaciones
3.
Turk J Pediatr ; 55(2): 152-7, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24192674

RESUMEN

Alpha-fetoprotein (AFP) is used as a tumor marker for hepatocellular carcinoma, hepatoblastoma and germ cell tumors. It may also be elevated in infants with some hepatobiliary disorders. The mechanism of AFP elevation in neonatal cholestasis is not known. We retrospectively evaluated serum AFP levels in 53 infants with neonatal cholestasis. Thirty patients (56.6%) had elevated AFP, and the ratio of patients with elevated AFP was significantly high in both the metabolic diseases and idiopathic neonatal hepatitis groups (p=0.021). Serum aspartate aminotransferase (AST) levels increased significantly in patients with elevated AFP (p=0.004). Steatosis was the distinctive histopathological finding of the patients with high AFP. The patients with steatosis had significantly higher standard deviation (SD) score of AFP than the patients without steatosis (p=0.001). We have shown AFP elevation in neonatal cholestasis due to metabolic disorders and idiopathic neonatal hepatitis and its association with steatosis and AST elevation.


Asunto(s)
Colestasis/sangre , alfa-Fetoproteínas/análisis , Aspartato Aminotransferasas/sangre , Colestasis/etiología , Hígado Graso/sangre , Femenino , Humanos , Lactante , Recién Nacido , Masculino
4.
Pediatr Blood Cancer ; 56(4): 664-6, 2011 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-21298757

RESUMEN

Hyperimmunoglobulinemia is documented in patients with Gaucher disease of all ages. We investigated the frequency of hyperimmunoglobulinemia in 12 pediatric patients with type I and III Gaucher disease and the effects of enzyme replacement therapy on these abnormalities. The incidence of hyperimmunoglobulinemia was 77%, 66%, and 60% at the diagnosis, before and after ERT, respectively. Immunoglobulin G abnormalities were the most commonly seen isotype abnormality. After enzyme replacement therapy normalization of IgA and IgM levels were recorded but decline in IgG levels was less likely to occur. This study indicated the higher frequency of hyperimmunoglobulinemia in pediatric Gaucher patients.


Asunto(s)
Terapia de Reemplazo Enzimático , Enfermedad de Gaucher/inmunología , Glucosilceramidasa/uso terapéutico , Hipergammaglobulinemia/complicaciones , Adolescente , Niño , Preescolar , Femenino , Enfermedad de Gaucher/tratamiento farmacológico , Humanos , Hipergammaglobulinemia/inmunología , Inmunoglobulina A/sangre , Inmunoglobulina G/sangre , Inmunoglobulina M/sangre , Lactante , Masculino , Proteínas Recombinantes , Adulto Joven
5.
Turk J Pediatr ; 53(2): 194-8, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21853658

RESUMEN

Congenital chloride diarrhea (CLD) (OMIM #214700) is a rare, autosomal recessive disease that is characterized by increased chloride loss in stool. As a result of electrolyte loss, surviving patients might have some complications, one of them being mental retardation. Here, we present three new Turkish patients with new mutations in the SLC26A3 gene. Although the clinical picture of the patients might be similar, consequences of the disease and complications might differ greatly among patients. Pediatricians should be aware of CLD as a potentially fatal or disabling disease if untreated. History of polyhydramnios, watery diarrhea, failure to thrive, poor growth, soiling, metabolic alkalosis and hypokalemia/hypochloremia should be an alarming set of findings for the diagnosis. Salt substitution therapy started early in life prevents early complications, allows normal growth and development, and favors good long-term prognosis.


Asunto(s)
Diarrea/congénito , Discapacidad Intelectual/etiología , Discapacidad Intelectual/prevención & control , Errores Innatos del Metabolismo/diagnóstico , Errores Innatos del Metabolismo/terapia , Niño , Diarrea/diagnóstico , Diarrea/psicología , Diarrea/terapia , Humanos , Masculino , Errores Innatos del Metabolismo/psicología , Enfermedades Raras
6.
Turk J Pediatr ; 53(5): 499-507, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-22272449

RESUMEN

We aimed to evaluate the outcome of enzyme replacement therapy (ERT) in Turkish Gaucher patients since it first became available in our country. Eleven patients with type I and one patient with type III Gaucher disease (GD) received therapy as 30-60 U/kg and 120 U/kg every two weeks, respectively, for at least six months, starting a mean period of 4.2 years after the diagnosis. Assessment of response included serial measurements of hematological and biochemical parameters and liver and spleen volumes. Symptoms and signs of bone disease, growth and severity scores were also evaluated. ERT in Turkish patients led to marked improvement in hematological parameters and organomegaly in the majority of them. Patients with growth failure demonstrated catch-up growth. Progression of bone disease was not observed except in two patients who experienced a delay of 15 and 8.6 years, respectively, between the diagnosis and the start of ERT.


Asunto(s)
Terapia de Reemplazo Enzimático , Enfermedad de Gaucher/tratamiento farmacológico , Glucosilceramidasa/uso terapéutico , Niño , Preescolar , Femenino , Enfermedad de Gaucher/enzimología , Humanos , Lactante , Masculino , Resultado del Tratamiento , Turquía
7.
Turk J Pediatr ; 63(1): 118-125, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33686834

RESUMEN

BACKGROUND: We aimed to investigate the relationship between human leukocyte antigens (HLA)-groups and clinical features, and degree of intestinal injury in children with celiac disease (CD). METHODS: Study group included 73 (50 females, 68.5%) children with CD. Demographic and clinical features, accompanying autoimmune diseases, family history for CD and degree of damage in small intestinal mucosa (according to Marsh classification) at the time of diagnosis were determined. Twenty-two siblings of celiac patients without CD (15 females, 65.2%) consisted control group 1, and 66 (40 females, 60.6%) people from the normal population consisted control group 2. RESULTS: The allele frequencies of HLA B8, B50, C6, C7, DR3, DR7, DQ2, and DR3 homozygosity were higher in the patient group. HLA DQ2 positivity was 89% in the patient group, 73.9 and 45.5% in control groups 1 and 2, respectively (p < 0.0001). HLA A30, C14, DR11, DQ3 frequency were lower in patients compared to both control groups. HLA-DR15 alleles in patient and control group 1 was significantly lower compared to the general population (p < 0.05). Thirty (41.1%) patients had typical, 43 (58.9%) patients had atypical presentation. Thirteen (17.8%) patients had other autoimmune diseases. There was no association between coexisting autoimmune diseases and the HLA antigens. Fifteen patients (20.5%) had a positive family history for CD; patients with HLA A69, B41 and C12 alleles had a higher positive family history (p < 0.05). Intestinal mucosal damage was as follows: 5 patients (6.8%) had Marsh 2, 25 (34.3%) Marsh 3a, 28 (38.4%) Marsh 3b, 15 (20.5%) Marsh 3c. Patients with HLA-DR15 alleles had more frequent Marsh 3a lesions (p < 0.05). CONCLUSIONS: B8, B50, C6, C7, DR3, DR7, DR3/DR3, DQ2 alleles were risk factors for CD in the Turkish population. HLA C14, DR11, DR15, and DQ3 alleles were found to have a protective role in the same population.


Asunto(s)
Enfermedad Celíaca , Adolescente , Alelos , Enfermedad Celíaca/diagnóstico , Enfermedad Celíaca/epidemiología , Enfermedad Celíaca/genética , Niño , Femenino , Frecuencia de los Genes , Antígenos HLA/genética , Humanos , Factores de Riesgo
8.
Turk J Gastroenterol ; 32(3): 248-250, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-34160354

RESUMEN

BACKGROUND: The aim of the study was to evaluate familial Mediterranean fever (FMF) mutation analysis in pediatric patients with inflammatory bowel disease (IBD). The relation between MEFV mutations and chronic inflammatory diseases has been reported previously. METHODS: Children with IBD (334 ulcerative colitis (UC), 224 Crohn's disease (CD), 39 indeterminate colitis (IC)) were tested for FMF mutations in this multicenter study. The distribution of mutations according to disease type, histopathological findings, and disease activity indexes was determined. RESULTS: A total of 597 children (mean age: 10.8 ± 4.6 years, M/F: 1.05) with IBD were included in the study. In this study, 41.9% of the patients had FMF mutations. E148Q was the most common mutation in UC and CD, and M694V in IC (30.5%, 34.5%, 47.1%, respectively). There was a significant difference in terms of endoscopic and histopathological findings according to mutation types (homozygous/ heterozygous) in patients with UC (P < .05). There was a statistically significant difference between colonoscopy findings in patients with or without mutations (P = .031, P = .045, respectively). The patients with UC who had mutations had lower Pediatric Ulcerative Colitis Activity Index (PUCAI) scores than the patients without mutations (P = .007). CONCLUSION: Although FMF mutations are unrelated to CD patients, but observed in UC patients with low PUCAI scores, it was established that mutations do not have a high impact on inflammatory response and clinical outcome of the disease.


Asunto(s)
Fiebre Mediterránea Familiar , Enfermedades Inflamatorias del Intestino , Mutación , Adolescente , Niño , Colitis Ulcerosa/epidemiología , Colitis Ulcerosa/genética , Enfermedad de Crohn/epidemiología , Enfermedad de Crohn/genética , Fiebre Mediterránea Familiar/genética , Humanos , Enfermedades Inflamatorias del Intestino/epidemiología , Enfermedades Inflamatorias del Intestino/genética
9.
Dig Dis Sci ; 55(12): 3488-94, 2010 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-20306331

RESUMEN

BACKGROUND AND AIMS: Familial Mediterranean fever (FMF) and inflammatory bowel disease (IBD) concordance has been investigated in a few studies. We investigated MEFV mutations and prevalence of FMF disease in Turkish children with IBD and their relationship with the disease severity. METHODS: Sixteen patients with ulcerative colitis (UC), 14 with Crohn's disease (CD) and three with indeterminate colitis (IC) were enrolled in the study (median age 13 years, range 0.6-16 years, n = 19 boys). Demographic, clinical and laboratory characteristics of the patients were evaluated as well as the parameters of disease severity. All patients were screened for 12 common MEFV mutations. RESULTS: MEFV mutations were detected in 17 of 66 (25.7%) alleles. Seven patients (four patients with CD, two with IC, and one with UC) were also diagnosed as FMF. FMF disease was found in seven of all IBD patients (21.2%) and four of them had CD. M694V was the leading mutation, and as a disease-causing mutation, it was found to be significantly more frequent in CD patients than UC patients (Fisher's exact test P = 0.03). Demographics, laboratory evaluations, growth parameters, extraintestinal manifestations, and treatment with immunosuppressive agents other than steroids were comparable between the patients with and without FMF in most aspects. CONCLUSIONS: Although this is a small cohort, disease-causing MEFV mutations and FMF disease rate were increased among our patients with IBD. The increase was prominent among CD patients, whereas in UC the rate was similar to the Turkish healthy control population.


Asunto(s)
Colitis Ulcerosa/genética , Enfermedad de Crohn/genética , Proteínas del Citoesqueleto/genética , Fiebre Mediterránea Familiar/genética , Adolescente , Niño , Preescolar , Consanguinidad , Análisis Mutacional de ADN , Fiebre Mediterránea Familiar/epidemiología , Femenino , Predisposición Genética a la Enfermedad/epidemiología , Predisposición Genética a la Enfermedad/genética , Humanos , Lactante , Masculino , Mutación , Prevalencia , Pirina , Estudios Seroepidemiológicos , Índice de Severidad de la Enfermedad , Turquía/epidemiología
10.
Turk J Pediatr ; 52(1): 73-7, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20402070

RESUMEN

Abetalipoproteinemia (ABL) is a rare autosomal disorder characterized by extremely low levels of plasma lipids and apolipoprotein B (apoB) with a variable phenotype. Mutations in the MTP gene encoding the microsomal triglyceride transfer protein (MTP) cause the disease. A five-month-old boy, born from consanguineous parents, with chronic diarrhea and severe malnutrition had extremely low plasma lipids and apoB levels suggesting the diagnosis of ABL. He was not responsive to treatment with low-fat diet and fat-soluble vitamins and died at 13 months of age with severe malnutrition. Analysis of the MTP gene showed that he was homozygous for a two nucleotide deletion in exon 4 (c.398-399delAA) expected to cause a frameshift in the mRNA leading to a premature termination codon. The normolipidemic proband's parents were found to be heterozygous for the mutation. This observation underscores that in some cases, ABL can be extremely severe from early post-natal life and poorly responsive to treatment.


Asunto(s)
Abetalipoproteinemia/genética , Proteínas Portadoras/genética , Mutación del Sistema de Lectura , Eliminación de Gen , Humanos , Lactante , Masculino , Fenotipo , Análisis de Secuencia de ADN
11.
Turk J Pediatr ; 52(3): 239-44, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20718180

RESUMEN

The aim of this study was to investigate the presentation pattern of newly diagnosed celiac disease (CD) in Turkish children in the last eight years. Two hundred twenty patients with newly diagnosed CD were included. The medical records of all the patients between January 2000 and October 2008 were reviewed. The clinical spectrum was divided into three categories according to the main symptoms that led to the diagnosis: gastrointestinal presentation, non-gastrointestinal presentation, and silent cases. The mean age of the patients was 7.2 +/- 4.3 years at diagnosis. According to the presenting signs, the patients were defined as gastrointestinal presentation (129 patients, 58.6%), non-gastrointestinal presentation (76 patients, 34.6%) and silent cases (15 patients, 6.8%). This study showed that the number/percentage of CD cases who presented with non-gastrointestinal symptoms/conditions, so-called "non-gastrointestinal presentation", have been increasing in the last eight years.


Asunto(s)
Enfermedad Celíaca/diagnóstico , Niño , Preescolar , Femenino , Humanos , Masculino , Turquía
12.
Turk J Haematol ; 27(4): 308-13, 2010 Dec 05.
Artículo en Inglés | MEDLINE | ID: mdl-27263748

RESUMEN

Giant cell hepatitis associated with direct Coombs' test-positive hemolytic anemia is a rare condition of childhood and the pathogenesis remains unclear. An autoimmune activation and loss of self-tolerance in these patients may be the underlying pathology related to the response of some of the patients to immunosuppressive treatment. Herein, we report the clinical presentation and course of three consecutive patients with this rare condition. We conclude that serum ferritin at diagnosis may be used for prediction of the outcome.

13.
Pediatr Blood Cancer ; 52(7): 870-1, 2009 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-19213078

RESUMEN

Gaucher disease (GD) is a lysosomal storage disease characterized by deficiency of beta-glucocerebrosidase, which results in accumulation of glucocerebroside in reticuloendothelial system, bone marrow infiltration, progressive hepatosplenomegaly, and skeletal complications. Herein we report a 5-year-old female with GD receiving enzyme replacement therapy who had giant mesenteric lymphadenopathies.


Asunto(s)
Enfermedad de Gaucher/diagnóstico , Glucosilceramidasa/genética , Enfermedades Linfáticas/diagnóstico , Linfoma/diagnóstico , Diagnóstico Diferencial , Femenino , Enfermedad de Gaucher/genética , Enfermedad de Gaucher/terapia , Glucosilceramidasa/deficiencia , Glucosilceramidasa/uso terapéutico , Humanos , Lactante , Enfermedades Linfáticas/genética , Enfermedades Linfáticas/terapia , Linfoma/genética , Linfoma/terapia , Tomografía Computarizada por Rayos X
14.
Acta Paediatr ; 98(8): 1368-71, 2009 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-19432836

RESUMEN

UNLABELLED: Takayasu's arteritis (TA) and ulcerative colitis (UC) are chronic inflammatory diseases of unknown aetiology, and their coexistence is very rare. A 14-year-old Turkish girl presented with abdominal pain, nausea, vomiting and weight loss. UC was diagnosed based on physical examination and laboratory investigations and was confirmed by colonoscopic biopsies. TA developed approximately 1 year later, and was diagnosed with angiography performed for ongoing severe abdominal pain in spite of well-controlled UC. Patients suffering from chronic inflammatory diseases such as UC must be investigated for other inflammatory diseases such as TA, especially if the response to immunosuppressant therapy is unsatisfactory. CONCLUSION: Findings from our patients suggest that paediatricians must remain alert to the possibility of abdominal vasculitis in patients with UC and unresolved abdominal pain in spite of clinical remission.


Asunto(s)
Colitis Ulcerosa/complicaciones , Arteritis de Takayasu/complicaciones , Dolor Abdominal/etiología , Adolescente , Aortografía , Colitis Ulcerosa/diagnóstico , Femenino , Humanos , Radiografía Abdominal , Arteritis de Takayasu/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Turquía
15.
Eur J Med Genet ; 51(4): 315-21, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-18586596

RESUMEN

Gaucher disease (GD) is the most frequent lysosomal glycolipid storage disorder due to autosomal recessive deficiency of acid beta-glucosidase and is characterized by the accumulation of glucocerebroside. In this work we carried out molecular analysis of the glucocerebrosidase gene (GBA) in 57 unrelated patients and the alleleic frequencies of gene mutations in Turkish patients are reported. The most prevalent are L444P and N370S accounting for 42% and 30% in our patients. We identified three novel genetic alterations: two missense changes S356F, L296V that are associated with the severe phenotype of type 1 GD. 303-305delCAC was identified in a homozygous state in one patient type 1 or type 3.


Asunto(s)
Sustitución de Aminoácidos/genética , Enfermedad de Gaucher/enzimología , Enfermedad de Gaucher/genética , Glucosilceramidasa/genética , Alelos , Niño , Preescolar , Femenino , Enfermedad de Gaucher/epidemiología , Humanos , Lactante , Masculino , Mutación Missense , Mutación Puntual , Prevalencia , Turquía/epidemiología
16.
J Gastroenterol ; 43(6): 429-33, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-18600386

RESUMEN

BACKGROUND: Research regarding the optimal therapeutic approach to Helicobacter pylori infection in children is ongoing. There is no consensus as to duration of treatment or second-line therapy. The purpose of this study was compare the efficacy of 7-day and 14-day triple therapies and report the results of second-line quadruple therapy in children. METHODS: A total of 275 consecutive H. pylori-infected patients were enrolled into two groups. Group 1 (n = 180) received triple therapy with 14 days of amoxicillin and clarithromycin and 21 days of proton pump inhibitor. Group 2 (n = 95) received triple therapy including 7 days of amoxicillin and clarithromycin with 21 days of proton pump inhibitor. Subsequently, 89 patients not responding to the triple therapies received quadruple therapy comprising omeprazole (14 days), bismuth subcitrate (7 days), doxycycline (7 days), and metronidazole (7 days). Eradication was evaluated by 13C-urea breath test. RESULTS: The per-protocol eradication rates in groups 1 and 2 were 60.5% and 55.8%, respectively (P = 0.44). In the second interview with 227 patients, severe symptoms were reported to have disappeared in 59% and decreased notably in 34.8%. Helicobacter pylori was eradicated in 66.7% of patients at the end of the quadruple therapy. In the third interview with 75 patients, severe symptoms had decreased in 38.6% and disappeared in 56%. CONCLUSIONS: The different duration of the two treatment regimens had no impact on eradication rates. Furthermore, quadruple therapy was necessary to achieve H. pylori eradication after triple therapy. However, the eradication rate with quadruple therapy was still insufficient. Consequently, a new therapeutic approach to H. pylori infection in children is needed.


Asunto(s)
Infecciones por Helicobacter/tratamiento farmacológico , Helicobacter pylori , Adolescente , Antiácidos/administración & dosificación , Antibacterianos/administración & dosificación , Niño , Quimioterapia Combinada , Femenino , Infecciones por Helicobacter/microbiología , Humanos , Masculino , Inhibidores de la Bomba de Protones/administración & dosificación
17.
Turk J Pediatr ; 50(5): 432-7, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-19102046

RESUMEN

This study was designed so that three sensitive and widely-used polymerase chain reaction (PCR) methods for the detection of TT virus or Torque Teno virus (TTV) would be simultaneously applied to a large number of subjects to evaluate performances of the various PCR protocols with different genotype sensitivities. Sera were collected from 92 children admitted to Hacettepe University Ihsan Dogramaci Children's Hospital Pediatric Gastroenterology Unit (17 cryptogenic chronic hepatitis, 17 asymptomatic HBs carriers, 18 chronic HBV patients and 40 healthy children). TTV DNA was detected via nested N22, nested 3'-UTR and 5'-UTR PCRs for all samples. Differences in TTV D N A detection prevalences were n o t statistically significantbetween the study groups with all TTV DNA and liver enzyme levels. A significant agreement between PCR methods that target UTR was observed. TTV detection rate increased with age, suggesting a non-parenteral, environmental exposure to the virus for the study population.


Asunto(s)
ADN Viral/análisis , Genoma Viral/genética , Virus de la Hepatitis B/genética , Hepatitis B Crónica/virología , Reacción en Cadena de la Polimerasa/métodos , Torque teno virus/genética , Niño , Femenino , Hepatitis B Crónica/diagnóstico , Humanos , Masculino , Reproducibilidad de los Resultados
18.
Turk J Pediatr ; 50(3): 228-34, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-18773667

RESUMEN

Ganciclovir treatment in children with cytomegalovirus (CMV) infection is still controversial and only indicated in selected cases. The aim of thi study was to evaluate clinical and demographic features of CMV hepatitis in immunocompetent children and to determine the effect of ganciclovir treatment in these patients retrospectively. The study was carried out in a group o 29 children with CMV hepatitis. All the patients were investigated for signs of infection, inborn errors of metabolism, genetic diseases, extrahepatic biliary atresia and other causes of hepatitis. Two patients with congenital CMV infection and two patients with biliary atresia were excluded from the study group. The patients included in the study were divided into two groups: non-cholestatic hepatitis (n=16) as Group I and cholestatic hepatitis (n=9) as Group II. Four (25%) patients in the non-cholestatic group and four (44.4 in the cholestatic group were treated with ganciclovir for a median of 21 days. The mean age was 9.6+/- 10.9 months (median age 6 months) in Group I, while cholestatic hepatitis patients in Group II were significantly younger, with a mean age of 2.7+/-0.9 months (p<0.01). The most prominent symptoms at admission were diarrhea and vomiting (25%) in Group I. In Group I, all cases (100%) and in Group II, three of four cases (75%) treated with ganciclovir had recovery from acute CMV hepatitis. In the non-cholestatic group, no relapses were observed while one patient in the cholestatic group relapsed and progressed into chronic liver disease. Patients who received supportive treatment showed a marked decrease in GGT, ALT, AST and bilirubin levels spontaneously and no relapses of hepatitis were observed in at least one year of follow-up. Although ganciclovir therapy is not indicated particularly in immunocompetent cases, since most were self-limited infections, in case of progressive and persistent hepatitis, such as in our cases, ganciclovir was a treatment option; no side effect due to ganciclovir therapy was observed in our cases. Although ganciclovir seems to be effective in progressive CMV hepatitis, multicenter randomized studies in a large study group are necessar to determine the efficacy and indications for ganciclovir treatment.


Asunto(s)
Antivirales/uso terapéutico , Infecciones por Citomegalovirus/tratamiento farmacológico , Ganciclovir/uso terapéutico , Hepatitis Viral Humana/tratamiento farmacológico , Inmunocompetencia , Preescolar , Colestasis/complicaciones , Femenino , Humanos , Lactante , Masculino , Estudios Retrospectivos
19.
J Pediatr Intensive Care ; 7(1): 54-58, 2018 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-31073469

RESUMEN

Individuals with trisomy 21 have an 80% risk reduction of vascular anomalies compared with general population. However, an association of trisomy 21 and portal vascular and arteriovenous anomalies has been defined in the literature. The primary hemodynamic abnormality in portal hypertension is increased resistance to portal blood flow. In various case reports in adults and pediatric age group patients, transarterial coil embolization of hepatoportal fistula was described. One of the authors of this article has previously reported successful treatment of congenital arterioportal fistula (APF) with percutaneous transhepatic liquid embolization in a patient who previously had transarterial coil embolization. To date, eight patients with trisomy 21 (Down syndrome) and congenital portosystemic shunts were reported of which four were treated with embolization. Here, we describe a 3-month-old infant with trisomy 21 and intrahepatic APF associated with extrahepatic portal hypertension and massive ascites. In the current report, a rare case of a patient with a diagnosis of trisomy 21 is discussed who was attempted to be treated with transarterial coil embolization and percutaneous transhepatic liquid embolization of the congenital APF in a single session.

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