Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease.

OBJECTIVE: To report genotype data of the patients with Wilson disease (WD) hailing from across several parts of India to add to the available spectrum of causative variants in ATP7B gene (ATPase copper transporting beta polypeptide gene) and associated phenotypes in the Indian population. METHODS: The entire ATP7B gene was sequenced in 58 patients with WD and additional testing was also done by MLPA to look for intragenic deletions duplications and exome sequencing to rule out genetic variations with similar phenotypic overlap. RESULTS: Of all patients, 37 patients had a total of 33 distinct pathogenic variations, including 29 in the exonic regions and 4 at intronic splice sites. Of the variations identified, six were novel. The underlying genomic variations could be identified in nearly two-thirds of the patients by sequencing the entire gene. CONCLUSIONS: This study reports the genotype-phenotype data to add to the available spectrum of causative variants in ATP7B gene. The inability to detect a pathogenic variation in some patients and the existence of phenotypic variations in individuals with the same variation suggest that additional factors or genes may play a role in causation of the disease. Further, a marked genetic heterogeneity was found in the study patients, indicating ethnic diversity of the Indian population.

Prevalence of non A to E hepatitis in Mumbai, India / Prevalencia de la hepatitis no A /E en Mumbai, India

Introduction: Acute viral hepatitis is a common problem in India. World wide data shows that 5 to 20 percent of this is caused by non A-E hepatitis. There is no data in India regarding non A-E hepatitis. We carried out this study to evaluate the epidemiology, clinical features, risk factors and outcome of non A-E hepatitis. Material and methods: In this single centre study, we evaluated all patients admitted with features of acute viral hepatitis at our hospital between the period of February to July 2015. A detailed history about the epidemiology, risk factors and clinical features was done. Patients were evaluated with bilirubin, transaminases and prothrombin time. Each patient was investigated for IgM HAV, IgM HEV, HBsAg and Antibody against hepatitis C. Patients turning out negative were investigated for presence of autoimmune hepatitis or Wilson's disease. All viral markers were repeated a week later to confirm non A-E status. Results: A total 265 patients were included of which 41 (15.4%) patients were non A-E hepatitis. They had higher age (28.55 vs 34.99, p<0.05) but similar gender and sub urban location. Median SEC classification was A2 in hepatitis A/E group as compared to A3 in non A-E group. The duration of symptoms and clinical features between the two groups were similar with Anorexia, Malasie, Nausea/vomiting being most common. The risk factors between the two groups were similar. The bilirubin and transaminases were non significantly lower than hepatitis A/E patients while albumin levels were significantly lower. The outcomes of both groups were similar with no mortality or fulminant hepatitis. Conclusion: Non A-E hepatitis patients tends to be older, lower SEC class and had lower albumin levels as compared to hepatitis A/E

Introdución: La hepatitis viral aguda es un problema común en la India. Los datos mundiales indican que el 5 al 20% es causada por hepatitis no A-E. No hay datos en la India sobre hepatitis no A-E. Objetivo: Se realiza este estudio para evaluar la epidemiología, clínica, factores de riesgo y pronóstico de la hepatitis no A-E. Material y métodos: En este estudio de un solo centro evaluamos a todos los pacientes que se admitieron con clínica de hepatitis viral aguda en nuestro hospital en el periodo de febrero a julio del 2015. Se realizó una historia detallada para evaluar la epidemiología, características clínicas. Se les tomó bilirrubinas, transaminasas y tiempo de protrombina. A cada paciente se le realizó HAV IgM, HEV IgM, HbsAg y anticuerpo anti hepatitis C. Los que fueron negativos se les estudió para hepatitis autoinmune y enfermedad de Wilson. Todos los marcadores virales se repitieron a la semana para confirmar hepatitis no A-E. Resultados: Se incluyeron 256 pacientes, 41 de ellos (15,4%) fueron hepatitis no A-E. Tuvieron más edad (28,55 vs 34,99, p<0,05), pero el mismo género y ubicación urbana. La clasificación media SEC fue A2 en el grupo hepatitis A/E, comparada con 3 en el grupo de no A-E. La duración de los síntomas y el desarrollo clínico fue similar en ambos grupos, siendo la anorexia el malestar general, las náuseas y los vómitos los más frecuentes. El factor de riesgo fue similar, al igual que las transaminasas, mientras que la albúmina fue significativamente menor. El resultado fue similar sin caso alguno de hepatitis fulminante. Conclusión: Los pacientes con hepatitis no A-E tienden a ser mayores, de clase SEC más baja y con valores de albumina más bajos que los pacientes con hepatitis A-E

Successful treatment of extensive splanchnic vein thrombosis in a patient with mycosis fungoides.

A 33-year-old man of a Middle Eastern origin presented to us with abdominal pain and distension secondary to refractory ascites of 1-month duration. The patient had a history of taking oral retinoic acid 25 mg for 4 months for mycosis fungoides. Investigations revealed thrombosis of hepatic veins with extensive thrombosis of the porto-mesenteric axis. A combination of transjugular intrahepatic portosystemic shunt, balloon angioplasty and thrombolysis with recombinant tissue plasminogen activator was successfully used to treat his condition.