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ABCB4 gene mutation-associated cirrhosis with systemic amyloidosis:A case report

World Journal of Clinical Cases 2023年第20期11卷 4903-4911页

作者： Na Cheng Yu-Jie Qin Quan Zhang Hong Li Department of Infectious Diseases Affiliated Hospital of Guizhou Medical UniversityGuizhou Medical UniversityGuiyang 550025Guizhou ProvinceChina Department of Infectious Diseases Guizhou Provincial People's HospitalGuiyang 550025Guizhou ProvinceChina

BACKGROUND Gene mutations in ATP-binding cassette,subfamily B(ABCB4)lead to autosomal recessive *** light amyloidosis is a rare and incurable ***,we report a rare case of liver cirrhosis caused by ABCB4 gene mutation combined with primary light *** SUMMARY We report a case of a 25-year-old female who was hospitalized due to recurrent abdominal pain caused by calculous cholecystitis and underwent *** examination of the liver tissue suggested liver cirrhosis with bile duct *** analyses of the whole genome from the patient’s peripheral blood revealed the presence of a heterozygous mutation in the ABCB4 *** marrow biopsy tissues,renal puncture examination,and liver mass spectrometry confirmed the diagnosis of a rare progressive familial intrahepatic cholestasis type 3 with systemic light chain type κ amyloidosis,which resulted in *** acid and the cluster of differentiation 38 monoclonal antibody daretozumab were administered for *** treatment,the patient demonstrated significant *** protein became negative,peripheral blood-free light chain and urine-free light chain levels returned to normal,and the electrocardiogram showed no ***,the patient’s lower limb numbness resolved,and her condition remained *** This report presents the diagnosis and treatment of liver cirrhosis,a rare disease that is easily misdiagnosed or missed.

关键词： ABCB4 gene Progressive familial intrahepatic cholestasis 3 Cirrhosis systemic amyloidosis Case report

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An autopsy case of acute pancreatitis with a high serum IgG4 complicated by amyloidosis and rheumatoid arthritis

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World Journal of Gastroenterology 2005年第13期11卷 2032-2034页

作者： Tatsuki Ichikawa Kazuhiko Nakao Keisuke Hamasaki Kazuaki Ohkubo Kan Toriyama Katsumi Eguchi The First Department of Internal Medicine Health Research Center Department of Pathology

We report an autopsy case of acute pancreatitis with a high serum IgG4 concentration complicated by systemic amyloid A amyloidosis and rheumatoid arthritis (RA). The patient was a 42-year-old Japanese female with a 22-year history of rheumatoid arthritis. She was diagnosed with myasthenia gravis when she was 31-year old. At the onset of pancreatitis, the patient was anti-nudear antibody-positive, and had high serum gamma globulin and IgG4 levels. Dexamethasone and conventional therapy induced clinical remission and significantly decreased the serum IgG4 and gamma globulin. However, despite the decreased disease parameters, the patient developed a bleeding pseudocyst and died of cardiac failure. In the autopsy examination, it was determined that pancreatitis was probably caused by ischemia due to vascular obstruction caused by amyloid deposition in the pancreas. Even though acute pancreatitis is a rare complication in RA patients, we speculate that an autoimmune pancreatitis-related mechanism and ischemia due to vascular obstruction by amyloid deposition might be attributable to a single source that leads to acute pancreatitis in our particular case.

关键词： Acute pancreatitis Rheumatoid arthritis IgG4 systemic amyloidosis Autoimmune pancreatitis

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Iatrogenic amyloid polyneuropathy after domino liver transplantation

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World Journal of Hepatology 2017年第3期9卷 126-130页

作者： Diana Mnatsakanova Sasa A Zivkovic Department of Neuro-logy University of Pittsburgh Medical CenterPittsburghPA 15213United States

Liver transplantation has been used in treatment of transthyretin amyloidosis, and some patients undergo domino liver transplantation(DLT) with explanted liverbeing transplanted to another patient with liver failure as the liver is otherwise usually functionally normal. Until end of 2015, there were 1154 DLT performed worldwide. DLT for transthyretin amyloidosis is associated with the risk of developing de novo systemic amyloidosis and amyloid neuropathy, and the risk may be greater with some non-Val30 Met mutations. De novo amyloid neuropathy has been described in up to 23% of transplant recipients. Neuropathy may be preceded by asymptomatic amyloid deposition in various tissues and symptoms of neuropathy started after a median of 7 years following DLT(5.7 ± 3.2 years; range 2 mo to 10 years). Typical initial symptoms include neuropathic pain and sensory loss, while dysautonomia usually starts later. Progression of neuropathy may necessitate liver re-transplantation, and subsequent improvement of neuropathy has been reported in some patients. Explant allograft recipients need close monitoring for signs of systemic amyloidosis, neuropathy and dysautonomia as progressive symptoms may require re-transplantation.

关键词： Transthyretin Familial amyloid neuropathy Domino liver transplantation systemic amyloidosis Acquired amyloid neuropathy

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