Liver Transplantation in a Woman with Mahvash Disease

被引:9
|
作者
Robbins, Justin [1 ]
Halegoua-DeMarzio, Dina [2 ]
Mallick, Atrayee Basu [3 ]
Vijayvergia, Namrata [7 ]
Ganetzky, Rebecca [8 ]
Lavu, Harish [4 ]
Giri, Veda N. [9 ,10 ]
Miller, Jeffrey [5 ]
Maley, Warren [4 ]
Shah, Ashesh P. [4 ]
DiMeglio, Matthew [1 ]
Ambelil, Manju [6 ]
Yu, Run [11 ]
Sato, Takami [2 ]
Lefler, Daniel S. [3 ,12 ]
机构
[1] Thomas Jefferson Univ, Dept Internal Med, Philadelphia, PA USA
[2] Thomas Jefferson Univ, Div Gastroenterol & Hepatol, Philadelphia, PA USA
[3] Thomas Jefferson Univ, Sidney Kimmel Canc Ctr, Dept Med Oncol, Philadelphia, PA USA
[4] Thomas Jefferson Univ, Dept Surg, Philadelphia, PA USA
[5] Thomas Jefferson Univ, Div Endocrinol Diabet & Metab Dis, Philadelphia, PA USA
[6] Thomas Jefferson Univ, Dept Pathol & Genom, Philadelphia, PA USA
[7] Fox Chase Canc Ctr, Dept Med Oncol, Philadelphia, PA USA
[8] Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA USA
[9] Yale Sch Med, Dept Med, Div Clin Canc Genet, Sect Med Oncol, New Haven, CT USA
[10] Yale Canc Ctr, New Haven, CT USA
[11] UCLA, Div Endocrinol Diabet & Metab, David Geffen Sch Med, Los Angeles, CA USA
[12] Perelman Ctr Adv Med, 10th Fl,South Pavilion,3400 Civ Ctr Blvd, Philadelphia, PA 19104 USA
来源
NEW ENGLAND JOURNAL OF MEDICINE | 2023年 / 389卷 / 21期
关键词
ALPHA-CELL HYPERPLASIA; GLUCAGON RECEPTOR; HYPERGLUCAGONEMIA; GLUCOSE; TUMOR;
D O I
10.1056/NEJMoa2303226
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Mahvash disease is an exceedingly rare genetic disorder of glucagon signaling characterized by hyperglucagonemia, hyperaminoacidemia, and pancreatic alpha-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. A woman with Mahvash disease underwent liver transplantation, which was followed by normalization of serum glucagon and ammonia levels and reversal of pancreatic hypertrophy.
引用
收藏
页码:1972 / 1978
页数:7
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