A Case of Successful Endoscopic Extraction of Common Bile Duct Stones After Closing a Duodenal Perforation Using Over-The-Scope Clip.

A 57-year-old man visited our hospital for acute cholangitis due to common bile duct (CBD) stones in March 2021. Biliary stenting was performed without any complications. The cholangitis improved rapidly. He was re-hospitalized to treat the CBD stones in May 2021. Although endoscopic retrograde cholangiopancreatography was performed, endoscopy caused a perforation of the duodenal bulb. We successfully performed endoscopic closure of the duodenal defect using an over-the-scope clip (OTSC®). Considering that mild CBD dilatation of 10 mm can carry an increased risk of stenosis after surgery, we decided to avoid surgery and perform a follow-up endoscopic treatment. He was re-hospitalized in July 2021. The endoscopy revealed OTSC® in the anterior wall of the duodenal bulb and complete healing of the perforation. We carefully advanced the scope to the second portion of the duodenum while avoiding OTSC®, and the ampulla of Vater was identified. We were then able to remove the stones without any complications. OTSC® was effective in closing a duodenal perforation and enabled us to carry out the retreatment safely and successfully.

Hepatocyte Growth Factor and Primary Systemic Amyloidosis.

A 75-year-old-man experienced liver dysfunction and was diagnosed with decompensated liver cirrhosis. His serum hepatocyte growth factor (HGF) was very high (16.24 ng/ml). Because the etiology was unclear, we considered the possibility of amyloidosis. Biopsy of the mucosa of the stomach, duodenum and rectum demonstrated amyloid deposition. From the findings of Congo red staining and immunohistochemical analyses, we made a diagnosis of systemic amyloid light-chain amyloidosis. Unfortunately, the patient died one month after the diagnosis. We considered that serum HGF was useful for the diagnosis and prediction of prognosis of primary systemic amyloidosis.

Type 4B hereditary hemochromatosis due to heterozygous p.D157A mutation in SLC40A1 complicated with hypopituitarism.

Hemochromatosis is a clinical syndrome characterized by iron overload in various organs. We present here a case of type 4 hereditary hemochromatosis due to heterozygous mutation in SLC40A1 gene (p.D157A). SLC40A1 encodes ferroportin, a macromolecule only known as iron exporter from mammalian cells. He first presented symptoms correlated with hypopituitarism. Furthermore, marked hyperferritinemia and high transferrin saturation were revealed in combination with the findings of iron overload in the liver, spleen and pituitary gland by computed tomography and magnetic resonance imaging. Liver biopsy revealed iron deposition in both hepatocytes and Kupffer cells. SLC40A1 mutations are considered to cause wide heterogeneity by various ferroportin mutations. Thus, clinicopathological examinations seem to be very important for diagnosing phenotype of type 4 hemochromatosis in addition to the gene analysis. We diagnosed him as type 4B hereditary hemochromatosis (ferroportin-associated hemochromatosis) by the findings of high transferrin saturation and iron deposition in hepatocytes, and then started iron chelating treatment. We should suspect the possibility of hereditary hemochromatosis even in Japanese with severe iron overload. Although the same mutation in SLC40A1 gene (p.D157A) had been reported to cause "loss of function" phenotype, we considered that the mutation of our case caused "gain of function" phenotype.

Idiopathic copper toxicosis: is abnormal copper metabolism a primary cause of this disease?

Idiopathic copper toxicosis (ICT) is characterized by marked copper deposition, Mallory-Denk body (MDB) formation and severe hepatic injury. Although the characteristics are apparently different from Wilson disease, large amounts of copper accumulate in the liver of the patients. We extensively treated a patient with ICT to reduce the body copper, however, the patient needed liver transplantation. Previous liver biopsy revealed high copper content. But extirpated liver contained an extremely small amount of copper, although MDBs and severe inflammation remained. These phenomena suggest abnormal copper metabolism is not the principle cause of ICT but some other abnormality must exist.