Familial Pernicious Chronic Intestinal Pseudo-obstruction with a Mitochondrial DNA A3243G Mutation
نویسندگان
چکیده
منابع مشابه
Familial Pernicious Chronic Intestinal Pseudo-obstruction with a Mitochondrial DNA A3243G Mutation
We report the case of a mother and two children who shared a mitochondrial DNA A3243G mutation. The mother had diabetes mellitus, neurogenic bladder, bradykinesia, dystonia, and slowly progressive cerebellar ataxia. Her two daughters were diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes at adolescence. They all presented with gastrointestinal symp...
متن کاملMitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis.
AIMS To report on a family with five members who carry the A3243G mutation in mitochondrial tRNA for leucine 1 (MTTL1) and present with diabetes, chronic intestinal pseudo-obstruction (CIPO) and recurrent pancreatitis, and to screen for this mutation in a cohort of 36 unrelated patients with recurrent pancreatitis. METHODS The mutation was quantified in several tissue samples from patients. R...
متن کاملMitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis
Auteur Verny, Christophe [1], Amati-Bonneau, Patrizia [2], Letournel, Franck [3], Person, Bruno [4], Dib, Nina [5], Malinge, Marie-Claire [6], Slama, A. [7], Le Maréchal, C. [8], Ferec, C. [9], Procaccio, Vincent [10], Reynier, Pascal [11], Bonneau, Dominique [12] Editeur Elsevier Masson Type Article scientifique dans une revue à comité de lecture Année 2008 Date 2008/12 Numéro 6 Pagination 620...
متن کامل[Chronic intestinal pseudo-obstruction].
Chronic intestinal pseudo-obstruction (CIPO) is a syndrome characterized by the presence of recurrent episodes of clinical intestinal obstruction in the absence of obstructive lesions. Although this syndrome is rare, it causes a high morbidity. It is caused by a disturbance of the intestinal motility, that results in a failure of the progression of the intestinal content. Basically, the failure...
متن کاملPrimary and Chronic Intestinal Pseudo Obstruction in a Patient with Probable Ovarian Agenesis
The patient is a 12 year-old girl who has been suffering from episodes of in testinal obstruction since she was 6 years old, leading to severe malnutrition, malabsorption and growth retardation. Repeated radiological examinations revealed esophageal achalasia, gastric distention, marked small intestinal and mild colonic dilatation. Transmural biopsies from small and large bowels showed normal ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Internal Medicine
سال: 2017
ISSN: 0918-2918,1349-7235
DOI: 10.2169/internalmedicine.56.7753