Novel α-Galactosidase A Mutation (K391E) in a Young Woman With Severe Cardiac and Renal Manifestations of Fabry Disease.

Fabry disease, an X-linked lysosomal storage disorder due to α-galactosidase A deficiency, is associated with dysfunction of various cell types and results in a systemic vasculopathy. We describe a 29-year-old woman with Fabry disease presenting with severe cardiac and renal manifestations. Gene analysis demonstrated a novel mutation (K391E) in the GLA gene. Enzyme replacement therapy (ERT) was started with agalsidase-ß after confirming the diagnosis of Fabry disease, resulting in normalization of LV systolic function and improvement of renal function. As early therapy is crucial for preventing life-threatening sequelae, clinicians should consider Fabry disease in young patients presenting with cardiac and renal disease without any likely causes.

Ascites Caused by Intestinal Anisakiasis: A Case Report and Literature Review.

Anisakiasis is a parasitic infection affecting the human gastrointestinal tract. It is caused by the consumption of contaminated, raw or inadequately cooked fish or squid, which is typically used for making sushi and sashimi. Most cases involve gastric anisakiasis, whereas intestinal anisakiasis is rare. This report describes the case of a 63-year-old Japanese woman with a history of raw fish consumption who presented with acute-onset abdominal pain and vomiting. Abdominal computed tomography (CT) demonstrated thickened small bowel loops and ascites on the liver surface. The patient was admitted for supportive care. On the second day of hospitalization, contrast-enhanced abdominal CT revealed that the ascites had moved from the liver surface to the pouch of Douglas. On the fifth day of hospitalization, the patient was discharged with a substantial improvement in abdominal pain. Five days after the discharge, her eosinophil count was elevated, and parasitic disease was therefore suspected. Anti-Anisakis IgG/A and IgE (RAST) antibody levels were elevated, confirming the diagnosis of intestinal anisakiasis. A review of 51 reported cases of intestinal anisakiasis suggests that the presence of ascites and measurement of anti-Anisakis antibody titers are helpful for diagnosis in cases presenting with nonspecific abdominal symptoms after consumption of raw or undercooked fish.

A Case of Fever, Impaired Consciousness, and Psychosis Caused by Nitrous Oxide Abuse and Misdiagnosed as Acute Meningitis.

Nitrous oxide (N2O) is readily available, and its abuse for recreational purposes has become a social problem. In Japan, where N2O is strictly prohibited for non-medical use, abuse is often overlooked due to a lack of experience in the field. N2O abuse causes various long-term symptoms, including vitamin B12 deficiency, myelopathy, myeloneuropathy, subacute combined degeneration, mood changes, and psychosis. The diagnosis of N2O abuse is difficult due to the compound's short half-life and rapid elimination through the lungs. This report describes a case of fever and impaired consciousness in a patient with a history of N2O abuse.

Serum Hepcidin-25 Levels Reflect the Presence of Bacteremia in Patients with Systemic Inflammatory Response Syndrome.

BACKGROUND: Hepcidin-25 is a key regulatory hormone of iron homeostasis in humans, and its production is greatly upregulated by inflammation as well as iron overload. The aim of this study was to investigate the pathophysiological role of hepcidin-25 in patients with systemic inflammatory response syndrome (SIRS). METHODS: We enrolled 113 consecutive patients (aged 63.4±21, 50 men, 63 women), with 2 or more SIRS criteria, who were admitted to our department of general medicine between August 1, 2015 and August 31, 2017. We measured complete blood cell count and serum levels of hepcidin-25, iron, iron-binding capacity, ferritin, blood urea nitrogen, creatinine, albumin, and C-reactive protein (CRP) on admission. The patients were divided into 3 group: a bacteremia group (27 patients), a culture-negative bacterial infection group (60 patients), and a non-bacterial infection group (26 patients). RESULTS: Hepcidin-25 levels were found to be comparable in terms of SIRS criteria: 162 [2.8-579], 193 [2.24-409], and 180 [89.2-421] ng/mL in patients with 2, 3, and 4 criteria, respectively (P=0.533). However, hepcidin-25 levels were significantly higher in the bacteremia group (209 [56.7-579] ng/mL) than in either the culture-negative bacterial infection group (168 [2.24-418] ng/mL) or the non-bacterial infection group (142 [2.8-409] ng/mL). A significant positive correlation between hepcidin-25 and CRP levels was noted in the bacteremia group (r=0.528, P=0.005) and non-bacterial infection group (r=0.648, P<0.001). Moreover, iron and ferritin levels were significantly lower in the bacteremia group than in the non-bacterial infection group. CONCLUSIONS: Our findings suggest that hepcidin-25 level may reflect the presence of bacteremia as well as the severity of inflammation in patients with SIRS.