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1.
J Atheroscler Thromb ; 2024 May 14.
Artigo em Inglês | MEDLINE | ID: mdl-38749717

RESUMO

Abetalipoproteinemia (ABL) is a rare disease characterized by extremely low apolipoprotein B (apoB)-containing lipoprotein levels, dietary fat, and fat-soluble vitamin malabsorption, leading to gastrointestinal, neuromuscular, and ophthalmological symptoms. We herein report a case of ABL with novel compound heterozygous mutations in the microsomal triglyceride transfer protein gene (c.1686_1687del [p.Ser563TyrfsTer10] and c.1862T>C [p.Ile621Thr]), identified via panel sequencing. Although the patient had extremely reduced low-density lipoprotein cholesterol levels and a fatty liver, he did not exhibit other typical complications. Furthermore, unlike typical ABL, this patient had a preserved apoB-48 secretion and increased concentrations of high-density lipoprotein cholesterol, which may account for the normal serum fat-soluble vitamin levels.

2.
Intern Med ; 58(3): 369-374, 2019 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-30210116

RESUMO

We herein report a 44-year-old man suffering from systemic edema due to protein-losing enteropathy (PLE) with superior mesenteric vein (SMV) obstruction and development of collateral veins, which subsequently proved to be a chronic result of thrombosis and a complication of Crohn's disease (CD). PLE was supposedly induced by both intestinal erosion and thrombosis-related lymphangiectasia, which was histologically proven in his surgically-resected ileal stenosis. Elemental diet and anti-TNFα agent improved his hypoalbuminemia after surgery. The rarity of the simultaneous coexistence of SMV obstruction and PLE and the precedence of these complications over typical abdominal symptoms of CD made the clinical course complex.


Assuntos
Doença de Crohn/complicações , Doença de Crohn/fisiopatologia , Veias Mesentéricas/fisiopatologia , Enteropatias Perdedoras de Proteínas/etiologia , Enteropatias Perdedoras de Proteínas/fisiopatologia , Trombose Venosa/fisiopatologia , Adulto , Doença de Crohn/terapia , Humanos , Masculino , Enteropatias Perdedoras de Proteínas/terapia , Resultado do Tratamento , Trombose Venosa/complicações , Trombose Venosa/etiologia , Trombose Venosa/terapia
3.
Clin J Gastroenterol ; 11(2): 145-149, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29204849

RESUMO

Human intestinal spirochetosis (HIS) is a colorectal infection caused by the Brachyspira species of intestinal spirochetes, whose pathogenicity in humans remains unclear owing to the lack of or mild symptoms. We monitored the 5-year clinical course of a woman diagnosed with HIS in whom ulcerative colitis (UC) had been suspected. Following a positive fecal occult blood test, she underwent a colonoscopic examination at a local clinic where she was diagnosed with "right-sided" UC concomitant with incidentally detected HIS, and was referred to our hospital. Colonoscopic, histopathological, and cytological examination revealed localized erosive colitis in the ascending and the right transverse colon concomitant with HIS resembling skip lesions of UC. Initially, we chose the wait-and-watch approach; however, she gradually developed bloody diarrhea. Metronidazole improved her abdominal symptoms, as well as her colonoscopic and histopathological findings, suggesting that HIS was responsible for her colorectal inflammation. This case reveals (1) a possible pro-inflammatory role of HIS, (2) difficulties in diagnosing HIS in chronic proctocolitis, and (3) a possible inclusion of some HIS cases in "UC". HIS could mimic UC and might be included in differential diagnoses for UC. Antibiotic administration is necessary following the detection of HIS, particularly in patients demonstrating an atypical presentation of UC.


Assuntos
Brachyspira , Colite Ulcerativa/diagnóstico , Colite/diagnóstico , Infecções por Bactérias Gram-Negativas/diagnóstico , Idoso , Anti-Infecciosos/uso terapêutico , Colite/tratamento farmacológico , Colite/patologia , Colonoscopia , Diagnóstico Diferencial , Diarreia/microbiologia , Feminino , Infecções por Bactérias Gram-Negativas/tratamento farmacológico , Infecções por Bactérias Gram-Negativas/patologia , Humanos , Metronidazol/uso terapêutico
4.
Intern Med ; 57(1): 37-41, 2018 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-29033425

RESUMO

We herein describe a 69-year-old man suffering from chronic diarrhea caused by lansoprazole (LPZ)-induced collagenous colitis (CC) accompanied with protein-losing enteropathy (PLE), diagnosed by increased fecal alpha-1 antitrypsin clearance and the findings of leakage from the descending colon to the sigmoid colon on scintigraphy. MR enterocolonography (MREC) was also performed for differentiating digestive diseases, and inflamed findings were observed around the same portion as those on scintigraphy, suggesting that this region was responsible for protein loss in this case. The MREC findings improved after the cessation of LPZ, and hypoalbuminemia also improved simultaneously. This case suggests that MREC may be a new and useful diagnostic tool for CC with PLE.


Assuntos
Colite Colagenosa/induzido quimicamente , Colite Colagenosa/terapia , Diarreia/induzido quimicamente , Lansoprazol/efeitos adversos , Enteropatias Perdedoras de Proteínas/diagnóstico por imagem , Enteropatias Perdedoras de Proteínas/terapia , Idoso , Colite Colagenosa/diagnóstico por imagem , Diarreia/terapia , Humanos , Imageamento por Ressonância Magnética , Masculino , Enteropatias Perdedoras de Proteínas/etiologia , Doenças Raras/diagnóstico , Doenças Raras/terapia , Resultado do Tratamento
5.
Case Rep Gastroenterol ; 7(1): 122-6, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23626512

RESUMO

A 51-year-old man was referred for body weight loss and lower right abdominal pain. Total colonoscopy revealed discrete and round ulceration at the ileocecal valve, and he was diagnosed with intestinal Behçet's disease (BD). By treatment with glucocorticoid, colchicine and salazosulfapyridine, the symptoms and ulceration were improved, but cessation of glucocorticoid resulted in relapse of ulceration at the terminal ileum. Long-term, low-dose treatment with clarithromycin (CAM) was implemented for chronic respiratory infections. Furthermore, we expected that this CAM treatment would also be effective in BD. During this long-term, low-dose treatment with CAM, discrete ulceration at the terminal ileum was never revealed by follow-up total colonoscopy once or twice per year for 7 years. No reports have described the effectiveness of this treatment in patients with intestinal BD; however, we confirm that long-term treatment with low-dose CAM might have clinical benefits for patients with intestinal BD.

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