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1.
Exp Clin Transplant ; 22(2): 129-136, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37486032

RESUMO

OBJECTIVES: Vitamin D deficiency is common in pediatric chronic liver disease despite oral replacement. We evaluated vitamin D deficiency before and after liver transplant and the relationship between posttransplant and pretransplant vitamin D deficiency and graft rejection. MATERIALS AND METHODS: Pediatric recipients with chronic liver disease (N =138) were divided into 4 groups: cholestatic liver diseases, cirrhosis, metabolic disorders, and acute liver failure. Pretransplant and posttransplant vitamin D levels, liver function tests, Pediatric End-Stage Liver Disease scores, rejection activity index scores by graft liver biopsy, and posttransplant patient survival were recorded. RESULTS: There were 62 (45%) female and 76 (55%) male participants (mean transplant age, 6.1 ± 5.6 years). Pretransplant mean available vitamin D of 90 patients was 25.2 ± 20.9 ng/mL, with 36 (40%) within reference range. Posttransplant level for 109 patients was 27.3 ± 18 ng/mL, with 64 (58.7%) within reference range. Pretransplant and posttransplant levels were available for 61 patients, and mean pretransplant levels were lower than posttransplant levels (23.7 ± 19.3 vs 28.3 ± 16.9 ng/mL; P = .01). Patients with cholestatic liver disease had lower pretransplant vitamin D levels (P = .04), which disappeared after transplant. Pretransplant vitamin D levels were positively correlated with serum albumin levels (r = 0.20) in all patients and negatively correlated with total/direct bilirubin (r = 0.29 and r = -0.30) in those with liver diseases and cirrhosis. No correlations were found between pretransplant vitamin D levels and Pediatric End-Stage Liver Disease scores, rejection activity index scores, and posttransplant mortality. CONCLUSIONS: Vitamin D deficiency is prevalent in pediatric chronic liver disease before and after transplant, especially for cholestatic liver diseases. However, no association between vitamin D levels and liver graft rejection or patient survival was noted. We recommend close monitoring and individualized vitamin D supplementation before and after liver transplant.


Assuntos
Colestase , Doença Hepática Terminal , Transplante de Fígado , Deficiência de Vitamina D , Humanos , Masculino , Feminino , Criança , Lactente , Pré-Escolar , Transplante de Fígado/efeitos adversos , Vitamina D , Doença Hepática Terminal/diagnóstico , Doença Hepática Terminal/cirurgia , Doença Hepática Terminal/complicações , Índice de Gravidade de Doença , Cirrose Hepática/complicações , Vitaminas , Deficiência de Vitamina D/complicações , Deficiência de Vitamina D/diagnóstico
2.
Arab J Gastroenterol ; 23(4): 290-293, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36384942

RESUMO

Chronic enteropathy associated with SLCO2A1 gene (CEAS) is a rare disorder characterized by multiple small intestine ulcers. Patients with CEAS typically present with chronic anemia and gastrointestinal bleeding. Besides CEAS, SLCO2A1 mutations cause primary hypertrophic osteoarthropathy (PHO) which is considered as an extraintestinal manifestation in CEAS patients. Since CEAS and Crohn's disease are clinically indistinguishable, patients are often misdiagnosed with Crohn's disease. Herein, we describe a 4-year-old Turkish girl with CEAS due to homozygous pathogenic variant (c.656C > T) in SLCO2A1 with concomitant hereditary fructose intolerance (HFI) caused by homozygous pathogenic variant (c.1005C > G) in ALDOB. Prompt restriction of fructose, sucrose and sorbitol resulted in hepatomegaly regression and mild amelioration of patient's symptoms. Despite budesonide and azathioprine treatments, patient's protein losing enteropathy and chronic anemia did not improve. Although previous CEAS cases were reported from East Asian countries, it is likely to occur in people from other geographic areas. CEAS seems to be underdiagnosed and high index of suspicion is required for the diagnosis of this rare entity. Patients with prior diagnosis of Crohn's disease with no response to immunosuppressive treatment or anti-TNF therapy should be re-evaluated for possible CEAS diagnosis.


Assuntos
Anemia , Doença de Crohn , Intolerância à Frutose , Transportadores de Ânions Orgânicos , Humanos , Pré-Escolar , Intolerância à Frutose/diagnóstico , Intolerância à Frutose/genética , Doença de Crohn/complicações , Doença de Crohn/diagnóstico , Doença de Crohn/genética , Doenças Raras , Inibidores do Fator de Necrose Tumoral , Transportadores de Ânions Orgânicos/genética
3.
Exp Clin Transplant ; 2022 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-35297328

RESUMO

OBJECTIVES: This was a retrospective analysis of liver transplant for pediatric patients with liver cirrhosis and hepatocellular carcinoma. MATERIALS AND METHODS: Fourteen pediatric patients with chronic liver disease and hepatocellular carcinoma underwent liver transplant from 2004 to 2021. Preexisting diseases were tyrosinemia (n = 6), progressive familial intrahepatic cholestasis type 2 (n = 2) and type 3 (n = 3), cryptogenic cirrhosis (n = 2), hepatitis B and D (n = 1), and biliary atresia (n = 1). RESULTS: Mean age was 9.43 ± 4.9 years (range, 13 months to 16 years). Three patients had 1 tumor, 4 had 2 tumors, and 7 had multiple (≥3) lesions. Six patients were classified as Pretreatment Extent of Disease Staging System for Hepatoblastoma (PRETEXT) stage IV, 3 as stage II, and 5 as stage I. Some patients received systemic chemotherapy before (n = 4) or after transplant (n = 3) or transarterial chemoembolization and microwave ablation pretransplant (n = 1). Hepatocellular carcinoma posttransplant recurrence was observed at 23, 47, and 108 months in 3 patients (21%). Recurrence sites were omentum (n = 1) and liver graft (n = 2). One patient was treated with hepatic resection, radiofrequency ablation, and radiotherapy, while the other received radiofrequency ablation and chemotherapy for graft tumor recurrence. Relapse-free patient survival rates were 92%, 82.5%, and 72.2% at 2, 4, and 10 years, respectively. Four recipients (28.5%) died; posttransplant cause of death was infection at 19 (n = 1) and 188 months (n = 1) or hepatocellular carcinoma recurrence at 79 (n = 1) and 165 months (n = 1). Median follow-up was 178 months (range, 13-204 months). Mean estimated survival was 171.25 ± 16.6 months. Overall patient posttransplant survival was 100%, 92.3%, 92.3%, 83%, and 72% at 1, 2, 5, 10, and 15 years, respectively. CONCLUSIONS: Hepatocellular carcinoma was mainly associated with inherited liver diseases in our pediatric series. Liver transplant provided a long-term survival advantage to pediatric patients with preexisting cirrhosis and hepatocellular carcinoma.

4.
Turk J Pediatr ; 62(6): 986-993, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33372437

RESUMO

BACKGROUND: Fecal calprotectin is an important inflammatory marker in intestinal diseases and is not routinely used in the upper gastrointestinal system disorders. The aim of this study was to show whether there is a relationship between fecal calprotectin levels and Helicobacter pylori (H pylori) gastritis in children and to determine the association of fecal calprotectin levels with gastric biopsy results in terms of chronic inflammation and neutrophil activity. METHODS: Patients with the complaints of the upper gastrointestinal system (epigastric pain, heartburn, nausea and vomiting) who were planned to undergo endoscopy were enrolled prospectively. The presence of H pylori was defined according to the gastric antrum biopsy results. Fecal calprotectin level was tested in the stool sample of the patients. The fecal calprotectin levels, upper gastrointestinal endoscopy and gastric biopsy results of 89 patients were evaluated. RESULTS: H pylori was found to be positive in the gastric biopsies of 51 (57.3%) patients. In the H pylori positive group mean fecal calprotectin level was 74.8 ± 67 µg/g, and in the H pylori negative group mean fecal calprotectin level was 52.7 ± 46 µg/g and the difference was significant (p= 0.039). We also found a significant relationship between fecal calprotectin levels and gastric neutrophil activity grades (p= 0.034). CONCLUSIONS: Mean fecal calprotectin levels were found to be higher in H pylori positive subjects in our study. Fecal calprotectin levels were correlated with gastric neutrophil activity grades. Fecal calprotectin represents gastric neutrophilic inflammation. When interpreting a high fecal calprotectin level, H pylori infection should be kept in mind.


Assuntos
Gastrite , Infecções por Helicobacter , Helicobacter pylori , Biópsia , Criança , Gastrite/diagnóstico , Gastroscopia , Infecções por Helicobacter/diagnóstico , Humanos , Complexo Antígeno L1 Leucocitário
5.
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.

6.
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
7.
J Pediatr Hematol Oncol ; 39(8): 626-628, 2017 11.
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 , Imageamento por Ressonância Magnética/métodos , Ultrassonografia
8.
Exp Clin Transplant ; 15(Suppl 1): 50-52, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28260432

RESUMO

OBJECTIVES: Our aim was to analyze our experience with orthotopic liver transplant for hepatoblastoma patients. MATERIALS AND METHODS: We performed a single-center retrospective analysis of 6 orthotopic liver transplant cases in children with hepatoblastoma from 2001 to March 2015. We evaluated patient demographic features, pretreatment extent of disease stage, type of transplant, change in serum alpha-fetoprotein levels, complications, and follow-up results. RESULTS: Orthotopic liver transplant was performed for pretreatment extent of disease stage III with a central location (n = 3) and pretreatment extent of disease stage IV (n = 3). All children underwent living-donor orthotopic liver transplant. Postoperative serum alpha-fetoprotein levels remained below 10 ng/mL during the follow-up period in 3 patients who were free of recurrences or metastases. Five patients were free of tumor recurrences at a median follow-up of 29.9 months. CONCLUSIONS: The limited number of cases we present without long-term follow-up of orthotopic liver transplant for unresectable hepatoblastoma seemed to show good clinical results.


Assuntos
Hepatoblastoma/cirurgia , Neoplasias Hepáticas/cirurgia , Transplante de Fígado , Fatores Etários , Criança , Pré-Escolar , Intervalo Livre de Doença , Feminino , Hepatoblastoma/sangue , Hepatoblastoma/patologia , Humanos , Lactente , Neoplasias Hepáticas/sangue , Neoplasias Hepáticas/patologia , Transplante de Fígado/métodos , Doadores Vivos , Masculino , Estadiamento de Neoplasias , Estudos Retrospectivos , Fatores de Tempo , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Turquia , alfa-Fetoproteínas/metabolismo
9.
Exp Clin Transplant ; 15(Suppl 1): 128-132, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28260452

RESUMO

OBJECTIVES: This study sought to evaluate the efficacy of liver transplant for unusual liver diseases. MATERIALS AND METHODS: The results of 476 patients who underwent liver transplant from 1988 to January 2015 were retrospectively analyzed. Two hundred forty-five of them were adult patients and 231 of them were pediatric. Thirty-one patients had unusual liver disease. RESULTS: Of the 31 patients with unusual liver disease, 9 (29%) were adult and 22 (71%) were pediatric patients. In the pediatric group, indications for liver transplant were Alagille syndrome (n = 5), Crigler-Najjar syndrome type 1 (n = 5), glycogen storage disease (n = 3), oxalosis (n = 3), familial hypercholesterolemia (n = 2), alpha-1-antitrypsin deficiency (n = 2), Caroli disease (n = 1), and cystic neuroblastoma metastasis (n = 1). Six patients (27.2%) had acute rejection episodes and were successfully treated with pulse steroids. In 2 patients, retransplant was performed for chronic rejection. Three patients died during follow-up (13.6%): 2 because of sepsis and 1 because of cranial hemorrhage. In the adult group, indications for liver transplant were neuroendocrine tumor metastasis (n = 1), liver angiosarcoma (n = 1), familial hypercholesterolemia (n = 2), alveolar hydatid disease (n = 2), cystic fibrosis (n = 1), congenital hepatic fibrosis (n = 1), and oxalosis (n = 1). Four patients (44.4%) had acute rejection episodes and were successfully treated with pulse steroid therapy. One patient died due to the recurrence of primary disease (liver angiosarcoma) during follow-up (11.1%). CONCLUSIONS: Advances in liver transplant and our understanding about unusual liver disease have led to significant improvements in managing these diseases. Liver transplant effectively treats the underlying defect and the complications of portal hypertension, or risk of malignancy for those disorders, in which the liver is affected.


Assuntos
Doença Hepática Terminal/cirurgia , Transplante de Fígado , Adolescente , Adulto , Criança , Pré-Escolar , Doença Hepática Terminal/diagnóstico , Doença Hepática Terminal/etiologia , Doença Hepática Terminal/mortalidade , Feminino , Rejeição de Enxerto/imunologia , Rejeição de Enxerto/prevenção & controle , Sobrevivência de Enxerto , Humanos , Imunossupressores/uso terapêutico , Lactente , Transplante de Fígado/efeitos adversos , Transplante de Fígado/mortalidade , Masculino , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento , Turquia , Adulto Jovem
10.
Exp Clin Transplant ; 15(Suppl 2): 55-58, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28302000

RESUMO

OBJECTIVES: Hepatocellular carcinoma is the sixth most common cancer worldwide and is the third highest cause of malignancy-related death. Because of its typically late diagnosis, median survival is approximately 6 to 20 months, with 5-year survival of < 12%. Hepatocellular carcinoma typically arises in the background of cirrhosis, with liver transplant regarded as the optimal therapy for selected patients. Initially, orthotopic liver transplant was limited to patients with extensive unresectable tumors, resulting in uniformly dismal outcomes due to high tumor recurrence rates. Here, we evaluated our long-term results with expanded-criteria liver transplant. MATERIALS AND METHODS: From December 1988 to January 2017, we performed 552 liver transplants at Baskent University. In candidates with hepatocellular carcinoma, our expanded criteria for liver transplant is applied regardless of tumor size and number, includes those without major vascular invasion and without distant metastasis, and those with negative cytology (if the patient has ascites). Since 1994, of 61 liver transplants for hepatocellular carcinoma, 36 patients received transplants according to our expanded criteria. RESULTS: Of 36 expanded-criteria patients, 11 were children and 25 were adults. Sixteen patients (4 pediatric, 12 adult) were within our expanded criteria both radiologically and pathologically before transplant. The other 20 patients (7 pediatric, 13 adult) were within Milan criteria radiologically before transplant; however, after liver transplant, when pathologic specimens were evaluated, patients were found to be within our center's expanded criteria. During follow-up, 9/36 patients (25%) had hepatocellular carcinoma recurrence. In pediatric patients, 5-year and 10-year survival rates were 90%; in adults, 5-year survival was 58.7% and 10-year survival was 49.7%. Overall 5-year and 10-year survival rates were 71.7% and 62.7%. CONCLUSIONS: Liver transplant is safe and effective in patients with hepatocellular carcinoma in combination with interventional radiology procedures, regardless of tumor size and number, without major vascular invasion and distant metastasis.


Assuntos
Carcinoma Hepatocelular/cirurgia , Técnicas de Apoio para a Decisão , Neoplasias Hepáticas/cirurgia , Transplante de Fígado , Adolescente , Adulto , Carcinoma Hepatocelular/mortalidade , Carcinoma Hepatocelular/secundário , Criança , Progressão da Doença , Intervalo Livre de Doença , Feminino , Humanos , Lactente , Neoplasias Hepáticas/mortalidade , Neoplasias Hepáticas/patologia , Transplante de Fígado/efeitos adversos , Transplante de Fígado/mortalidade , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Seleção de Pacientes , Valor Preditivo dos Testes , Estudos Retrospectivos , Fatores de Risco , Análise de Sobrevida , Fatores de Tempo , Resultado do Tratamento , Turquia
11.
Exp Clin Transplant ; 15(Suppl 2): 74-78, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28302004

RESUMO

Propranolol was first used in 2008 to treat hemangioma; its efficacy and safety have since changed the classical treatment indications. Infantile hepatic hemangioma presents as a spectrum of clinical conditions varying from simple asymptomatic lesions to lethal complications. Tufted hemangioma and Kaposiform hemangioendothelioma are congenital vascular tumors that lead to Kasabach-Merritt syndrome. Hemangiomas, like pure arteriovenous malformations, can cause hyperdynamic heart failure, and diffuse nodular-type hemangiomas can present with hypothyroidism. Respiratory problems and hepatic failure can be associated with diffuse nodular-type liver hemangiomas. There is a spectrum of approaches to management, varying from "watchful waiting" to liver transplant. In the age of propranolol, there has been a prominent change in the infantile hepatic hemangioma treatment algorithm. Our suggestion is early treatment with 3 mg/kg/day propranolol plus 1.0 to1.5 mg/kg/day prednisolone in all patients. This protocol is the most effective strategy for type 3 infantile hepatic hemangioma. Approximately one-third of patients with abdominal compartment syndrome in the era before propranolol treatment required liver transplant; this new treatment obviates transplant for many of these patients.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Hemangioma/tratamento farmacológico , Neoplasias Hepáticas/tratamento farmacológico , Propranolol/uso terapêutico , Universidades , Idade de Início , Algoritmos , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Procedimentos Clínicos , Feminino , Hemangioma/patologia , Humanos , Lactente , Neoplasias Hepáticas/patologia , Transplante de Fígado , Masculino , Prednisolona/uso terapêutico , Propranolol/efeitos adversos , Estudos Retrospectivos , Resultado do Tratamento , Turquia
13.
Springerplus ; 5: 128, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26933627

RESUMO

Experience with endoscopic retrograde cholangiopancreatography in the pediatric population is limited. The aim of this study was to evaluate the outcomes of ERCP in the pediatric population performed by adult gastroenterologists with standard duodenoscopes. This study is a structured retrospective review of endoscopic reports, computerized and paper medical records, and radiographic images of patients under the age of 18 who underwent ERCP for any indication at a tertiary referral centre. Data regarding demographic characteristics and medical history of patients, indications, technical success rate, final clinical diagnosis, and complications were analyzed. Forty-eight children with a mean age of 13 years (range 2-17) underwent a total of 65 ERCPs. The indications of ERCP were as follows; suspected choledocholithiasis (55 %), post-liver transplantation anastomotic biliary strictures (21 %), post-surgical bile duct injury (10 %), choledochal cyst (2 %), recurrent or chronic pancreatitis (10 %), and trauma (2 %). The cannulation success rate in the overall procedure was 93.8 %. Therapeutic interventions were performed in 70.7 % of patients. Post ERCP pancreatitis was the most common complication occurring in 9.2 % of patients, and no procedure related mortality occurred. When performed by well-trained adult gastroenterologists, the use of endoscopic retrograde cholangiopancreatography with standard duodenoscopes is safe in pediatric population.

14.
J Child Neurol ; 31(3): 285-8, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26078418

RESUMO

To determine the prevalence of celiac disease in children and adolescents with nonsyndromic intellectual disability, we investigated serum levels of tissue transglutaminase antibody and total IgA from 232 children with nonsyndromic intellectual disability and in a healthy control group of 239 children. Study participants who were positive for tissue transglutaminase antibody underwent a duodenal biopsy. A total of 3 patients in the nonsyndromic intellectual disability group (5.45%) and 1 in the control group (0.41%) had positive serum tissue transglutaminase antibody (P > .05). Duodenal biopsy confirmed celiac disease in only 1 patient who had nonsyndromic intellectual disability. In this present study, children with nonsyndromic intellectual disability did not exhibit a higher celiac disease prevalence rate compared with healthy controls. Therefore, we suggest that screening test for celiac disease should not be necessary as a part of the management of mild and moderate nonsyndromic intellectual disability. However, cases of severe nonsyndromic intellectual disability could be examined for celiac disease.


Assuntos
Doença Celíaca/complicações , Doença Celíaca/epidemiologia , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/etiologia , Adolescente , Biomarcadores/sangue , Análise Química do Sangue , Doença Celíaca/diagnóstico , Doença Celíaca/patologia , Criança , Duodeno/patologia , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Imunoglobulina A/sangue , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/patologia , Masculino , Prevalência
15.
Exp Clin Transplant ; 13 Suppl 3: 107-9, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26640927

RESUMO

We present a rare case of progressive familial intrahepatic cholestasis within a family. A 34-yearold female became a living-related liver transplant donor for her son, who had the disease. Nine years after the transplant, the mother developed severe intrahepatic cholestasis, for which she was evaluated after using an oral contraceptive drug. She presented with jaundice, pruritus, and increased bilirubin levels, together with elevated gamma glutamyl transferase and alkaline phosphatase levels. A liver biopsy revealed findings consistent with intrahepatic cholestasis. However, despite follow-up management and cessation of the insulting drug, her total bilirubin count continuously increased to 20 mg/dL and was accompanied by intractable pruritus. A total of 9 plasmapheresis sessions were performed, and she was started on a regimen of ursodeoxycholic acid (13 mg/kg/d) and cholestyramine (4 g, 3 times daily). The clinical and laboratory picture dramatically improved following cessation of the oral contraceptive, plasmapheresis sessions, and drug treatment. The patient's cholestasis normalized within 3 months, and she recovered uneventfully. A genetic analysis of the whole family revealed that both parents were heterozygous for the mutation c.124G>A in ABCB11, and the son was homozygous for this mutation. These findings supported varying degrees of bile salt export pump deficiency in the family members. Defective bile salt excretory system function can result in a wide spectrum of clinical presentations, ranging from progressive familial intrahepatic cholestasis requiring liver transplant to late-onset drug-induced cholestasis. Our findings suggest that, in a heterozygous carrier of a progressive familial intrahepatic cholestasis mutation, drug-induced cholestasis is responsive to treatment, after which the clinical picture can normalize within 3 months.


Assuntos
Transportadores de Cassetes de Ligação de ATP/genética , Doença Hepática Induzida por Substâncias e Drogas/genética , Colestase Intra-Hepática/genética , Anticoncepcionais Orais Hormonais/efeitos adversos , Transplante de Fígado/métodos , Doadores Vivos , Mutação , Membro 11 da Subfamília B de Transportadores de Cassetes de Ligação de ATP , Adulto , Bilirrubina/sangue , Biomarcadores/sangue , Biópsia , Doença Hepática Induzida por Substâncias e Drogas/diagnóstico , Doença Hepática Induzida por Substâncias e Drogas/terapia , Colestase Intra-Hepática/diagnóstico , Análise Mutacional de DNA , Feminino , Predisposição Genética para Doença , Hepatectomia , Heterozigoto , Humanos , Fenótipo , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento
16.
Exp Clin Transplant ; 13(5): 471-4, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26450470

RESUMO

Diaphragmatic hernia is an unusual complication after pediatric liver transplant. Nearly half of bowel obstruction cases, which require surgical intervention in liver transplant patients, are caused by diaphragmatic hernia. The smaller patients are at risk for higher rates of diaphragmatic complication after pediatric liver transplant, but diaphragmatic hernia has not been reported as a unique occurrence. Here, we report 3 cases of diaphragmatic hernia after liver transplant and discuss the possible contributing factors. Diaphragmatic hernia should nevertheless be added to the list of potential complications after liver transplant in the pediatric population. Pediatric transplant physicians and surgeons should be aware of this complication so that it is recognized promptly in both acute and nonacute settings and appropriate action is taken.


Assuntos
Hérnia Diafragmática/etiologia , Transplante de Fígado/efeitos adversos , Fatores Etários , Pré-Escolar , Feminino , Hérnia Diafragmática/diagnóstico , Hérnia Diafragmática/cirurgia , Herniorrafia , Humanos , Lactente , Masculino , Reoperação , Fatores de Risco , Tomografia Computadorizada por Raios X , Resultado do Tratamento
17.
Exp Clin Transplant ; 13 Suppl 1: 108-10, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25894137

RESUMO

OBJECTIVES: The ideal ratio between liver transplant graft mass and recipient body weight is unknown, but the graft probably must weigh 0.8% to 2.0% recipient weight. When this ratio > 4%, there may be problems due to large-for-size transplant, especially in recipients < 10 kg. This condition is caused by discrepancy between the small abdominal cavity and large graft and is characterized by decreased blood supply to the liver graft and graft dysfunction. We evaluated our experience with large-for-size grafts. MATERIALS AND METHODS: We retrospectively evaluated 377 orthotopic liver transplants that were performed from 2001-2014 in our center. We included 188 pediatric transplants in our study. RESULTS: There were 58 patients < 10 kg who had living-donor living transplant with graft-to-bodyweight ratio > 4%. In 2 patients, the abdomen was closed with a Bogota bag. In 5 patients, reoperation was performed due to vascular problems and abdominal hypertension, and the abdomen was closed with a Bogota bag. All Bogota bags were closed in 2 weeks. After closing the fascia, 10 patients had vascular problems that were diagnosed in the operating room by Doppler ultrasonography, and only the skin was closed without fascia closure. No graft loss occurred due to large-for-size transplant. There were 8 patients who died early after transplant (sepsis, 6 patients; brain death, 2 patients). There was no major donor morbidity or donor mortality. CONCLUSIONS: Large-for-size graft may cause abdominal compartment syndrome due to the small size of the recipient abdominal cavity, size discrepancies in vascular caliber, insufficient portal circulation, and disturbance of tissue oxygenation. Abdominal closure with a Bogota bag in these patients is safe and effective to avoid abdominal compartment syndrome. Early diagnosis by ultrasonography in the operating room after fascia closure and repeated ultrasonography at the clinic may help avoid graft loss.


Assuntos
Doença Hepática Terminal/cirurgia , Transplante de Fígado/métodos , Fígado/cirurgia , Peso Corporal , Doença Hepática Terminal/diagnóstico , Doença Hepática Terminal/mortalidade , Feminino , Sobrevivência de Enxerto , Humanos , Fígado/irrigação sanguínea , Fígado/patologia , Transplante de Fígado/efeitos adversos , Transplante de Fígado/mortalidade , Doadores Vivos , Masculino , Tamanho do Órgão , Complicações Pós-Operatórias/mortalidade , Complicações Pós-Operatórias/prevenção & controle , Complicações Pós-Operatórias/cirurgia , Reoperação , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento , Turquia
18.
J Card Surg ; 29(5): 712-6, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24889258

RESUMO

BACKGROUND AND AIM: Protein-losing enteropathy is a rare complication of the Fontan palliation surgery. Budesonide is an effective treatment option for protein-losing enteropathy. We reviewed our retrospective experience in four patients who were treated with oral budesonide. METHODS: Four patients with refractory protein-losing enteropathy after the Fontan operation were started on oral budesonide 9 mg/daily. After achieving normal serum albumin the dose was tapered to 3 mg. Response to oral budesonide, side effects, and serum albumin levels before the treatment and at first, fourth, and ninth months of the budesonide course were recorded. Efficacy was measured based on serum albumin levels and clinical symptoms. RESULTS: Mean pretherapy albumin was 2.25 g/dL (range 1.7 to 2.5 g/dL) and nine months after therapy it was 4.15 g/dL (range 3.9 to 4.4 g/dL) (p < 0.05). All patients had at least a transient improvement in serum albumin levels and clinical findings. Systemic side effects included cushingoid features and oral moniliasis. All patients had improvement in side effects after tapering budesonide to 3 mg. The treatment was terminated in one case as soon as serum albumin level exceeded 3 g/dL. One death occurred from respiratory arrest six months after budesonide discontinuation. CONCLUSION: Budesonide can be used to treat protein-losing enteropathy in selected patients with cardiac diseases.


Assuntos
Budesonida/administração & dosagem , Técnica de Fontan , Glucocorticoides/administração & dosagem , Complicações Pós-Operatórias/tratamento farmacológico , Enteropatias Perdedoras de Proteínas/tratamento farmacológico , Administração Oral , Adolescente , Biomarcadores/sangue , Budesonida/efeitos adversos , Criança , Pré-Escolar , Feminino , Glucocorticoides/efeitos adversos , Humanos , Masculino , Enteropatias Perdedoras de Proteínas/diagnóstico , Estudos Retrospectivos , Albumina Sérica/análise , Resultado do Tratamento
20.
Exp Clin Transplant ; 12 Suppl 1: 159-61, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24635817

RESUMO

OBJECTIVES: The overall incidence, causes, and treatment of posttransplant gastrointestinal bleeding, have been previously described. In this study, we examined the causes and treatment of postoperative gastrointestinal bleeding after orthotopic liver transplant. MATERIALS AND METHODS: Clinical data of 335 patients who underwent an orthotopic liver transplant at our institution between September 2001 and December 2012 were analyzed retrospectively. The diagnosis and treatment of postoperative gastrointestinal bleeding after an orthotopic liver transplant were reviewed. RESULTS: Gastrointestinal bleeding occurred in 13 patients (3.8%) after an orthotopic liver transplant. Five patients (38.4%) were adult and 8 patients (61.6%) were pediatric. The sites of the bleeding were Roux-en-Y anastomosis bleeding in 5 cases, peptic ulcer in 3 cases, erosive gastritis in 3 cases, gastric and esophageal varices in 1 case, and hemobilia in 1 case. These 13 patients with gastrointestinal bleeding were managed with conservative treatment, endoscopic treatment, radiologic interventional embolism, or exploratory laparotomy. No patients died because of gastro--intestinal bleeding. During follow-up, 4 patients died because of sepsis and 1 patient died of recurrence of hepatocellular carcinoma. CONCLUSIONS: Gastrointestinal bleeding after liver transplant and its incidence, causes, and treatment are not well-described in the literature. Diagnosis and management of gastrointestinal bleeding requires a multidisciplinary approach involving surgeons, hepatologists, advanced and experienced endoscopists, and interventional radiologists.


Assuntos
Hemorragia Gastrointestinal/etiologia , Transplante de Fígado/efeitos adversos , Hemorragia Pós-Operatória/etiologia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Hemorragia Gastrointestinal/diagnóstico , Hemorragia Gastrointestinal/terapia , Técnicas Hemostáticas , Humanos , Lactente , Transplante de Fígado/mortalidade , Masculino , Pessoa de Meia-Idade , Hemorragia Pós-Operatória/diagnóstico , Hemorragia Pós-Operatória/terapia , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento , Turquia , Adulto Jovem
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