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Liver Transplantation in a Woman with Mahvash Disease.
Robbins, Justin; Halegoua-DeMarzio, Dina; Basu Mallick, Atrayee; Vijayvergia, Namrata; Ganetzky, Rebecca; Lavu, Harish; Giri, Veda N; Miller, Jeffrey; Maley, Warren; Shah, Ashesh P; DiMeglio, Matthew; Ambelil, Manju; Yu, Run; Sato, Takami; Lefler, Daniel S.
Afiliação
  • Robbins J; From the Department of Internal Medicine (J.R., M.D.), the Division of Gastroenterology and Hepatology (D.H.-D., T.S.), the Department of Medical Oncology, Sidney Kimmel Cancer Center (A.B.M., D.S.L.), the Department of Surgery (H.L., W.M., A.P.S.), the Division of Endocrinology, Diabetes, and Metab
  • Halegoua-DeMarzio D; From the Department of Internal Medicine (J.R., M.D.), the Division of Gastroenterology and Hepatology (D.H.-D., T.S.), the Department of Medical Oncology, Sidney Kimmel Cancer Center (A.B.M., D.S.L.), the Department of Surgery (H.L., W.M., A.P.S.), the Division of Endocrinology, Diabetes, and Metab
  • Basu Mallick A; From the Department of Internal Medicine (J.R., M.D.), the Division of Gastroenterology and Hepatology (D.H.-D., T.S.), the Department of Medical Oncology, Sidney Kimmel Cancer Center (A.B.M., D.S.L.), the Department of Surgery (H.L., W.M., A.P.S.), the Division of Endocrinology, Diabetes, and Metab
  • Vijayvergia N; From the Department of Internal Medicine (J.R., M.D.), the Division of Gastroenterology and Hepatology (D.H.-D., T.S.), the Department of Medical Oncology, Sidney Kimmel Cancer Center (A.B.M., D.S.L.), the Department of Surgery (H.L., W.M., A.P.S.), the Division of Endocrinology, Diabetes, and Metab
  • Ganetzky R; From the Department of Internal Medicine (J.R., M.D.), the Division of Gastroenterology and Hepatology (D.H.-D., T.S.), the Department of Medical Oncology, Sidney Kimmel Cancer Center (A.B.M., D.S.L.), the Department of Surgery (H.L., W.M., A.P.S.), the Division of Endocrinology, Diabetes, and Metab
  • Lavu H; From the Department of Internal Medicine (J.R., M.D.), the Division of Gastroenterology and Hepatology (D.H.-D., T.S.), the Department of Medical Oncology, Sidney Kimmel Cancer Center (A.B.M., D.S.L.), the Department of Surgery (H.L., W.M., A.P.S.), the Division of Endocrinology, Diabetes, and Metab
  • Giri VN; From the Department of Internal Medicine (J.R., M.D.), the Division of Gastroenterology and Hepatology (D.H.-D., T.S.), the Department of Medical Oncology, Sidney Kimmel Cancer Center (A.B.M., D.S.L.), the Department of Surgery (H.L., W.M., A.P.S.), the Division of Endocrinology, Diabetes, and Metab
  • Miller J; From the Department of Internal Medicine (J.R., M.D.), the Division of Gastroenterology and Hepatology (D.H.-D., T.S.), the Department of Medical Oncology, Sidney Kimmel Cancer Center (A.B.M., D.S.L.), the Department of Surgery (H.L., W.M., A.P.S.), the Division of Endocrinology, Diabetes, and Metab
  • Maley W; From the Department of Internal Medicine (J.R., M.D.), the Division of Gastroenterology and Hepatology (D.H.-D., T.S.), the Department of Medical Oncology, Sidney Kimmel Cancer Center (A.B.M., D.S.L.), the Department of Surgery (H.L., W.M., A.P.S.), the Division of Endocrinology, Diabetes, and Metab
  • Shah AP; From the Department of Internal Medicine (J.R., M.D.), the Division of Gastroenterology and Hepatology (D.H.-D., T.S.), the Department of Medical Oncology, Sidney Kimmel Cancer Center (A.B.M., D.S.L.), the Department of Surgery (H.L., W.M., A.P.S.), the Division of Endocrinology, Diabetes, and Metab
  • DiMeglio M; From the Department of Internal Medicine (J.R., M.D.), the Division of Gastroenterology and Hepatology (D.H.-D., T.S.), the Department of Medical Oncology, Sidney Kimmel Cancer Center (A.B.M., D.S.L.), the Department of Surgery (H.L., W.M., A.P.S.), the Division of Endocrinology, Diabetes, and Metab
  • Ambelil M; From the Department of Internal Medicine (J.R., M.D.), the Division of Gastroenterology and Hepatology (D.H.-D., T.S.), the Department of Medical Oncology, Sidney Kimmel Cancer Center (A.B.M., D.S.L.), the Department of Surgery (H.L., W.M., A.P.S.), the Division of Endocrinology, Diabetes, and Metab
  • Yu R; From the Department of Internal Medicine (J.R., M.D.), the Division of Gastroenterology and Hepatology (D.H.-D., T.S.), the Department of Medical Oncology, Sidney Kimmel Cancer Center (A.B.M., D.S.L.), the Department of Surgery (H.L., W.M., A.P.S.), the Division of Endocrinology, Diabetes, and Metab
  • Sato T; From the Department of Internal Medicine (J.R., M.D.), the Division of Gastroenterology and Hepatology (D.H.-D., T.S.), the Department of Medical Oncology, Sidney Kimmel Cancer Center (A.B.M., D.S.L.), the Department of Surgery (H.L., W.M., A.P.S.), the Division of Endocrinology, Diabetes, and Metab
  • Lefler DS; From the Department of Internal Medicine (J.R., M.D.), the Division of Gastroenterology and Hepatology (D.H.-D., T.S.), the Department of Medical Oncology, Sidney Kimmel Cancer Center (A.B.M., D.S.L.), the Department of Surgery (H.L., W.M., A.P.S.), the Division of Endocrinology, Diabetes, and Metab
N Engl J Med ; 389(21): 1972-1978, 2023 Nov 23.
Article em En | MEDLINE | ID: mdl-37991855
ABSTRACT
Mahvash disease is an exceedingly rare genetic disorder of glucagon signaling characterized by hyperglucagonemia, hyperaminoacidemia, and pancreatic α-cell hyperplasia. Although there is no known definitive treatment, octreotide has been used to decrease systemic glucagon levels. We describe a woman who presented to our medical center after three episodes of small-volume hematemesis. She was found to have hyperglucagonemia and pancreatic hypertrophy with genetically confirmed Mahvash disease and also had evidence of portal hypertension (recurrent portosystemic encephalopathy and variceal hemorrhage) in the absence of cirrhosis. These findings established a diagnosis of portosinusoidal vascular disease, a presinusoidal type of portal hypertension previously known as noncirrhotic portal hypertension. Liver transplantation was followed by normalization of serum glucagon and ammonia levels, reversal of pancreatic hypertrophy, and resolution of recurrent encephalopathy and bleeding varices.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Glucagon / Transplante de Fígado / Doenças Genéticas Inatas / Hipertensão Portal Limite: Female / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Glucagon / Transplante de Fígado / Doenças Genéticas Inatas / Hipertensão Portal Limite: Female / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article