Yoshihiro Kasamatsu

Hereditary angioedema in Japan: Genetic analysis of 13 unrelated cases

Introduction:The molecular bases and clinical features of hereditary angioedema (HAE) have not been systematically documented in Japan or in other Asian countries. Thus, the authors researched the genetic and clinical characteristics of Japanese patients with HAE. Methods:The authors analyzed the CIINH gene for mutations in 13 unrelated Japanese patients with HAE by means of the polymerase chain reaction and nucleotide sequencing. In addition, the authors searched the literature from January 1969 to October 2010 on Japanese patients with HAE. Results:Seven of the mutations found were novel, including 4 missense mutations (8728T>G, 8831C>A, 16661T>G and 16885C>A), 2 frameshift mutations (2281_2350del70, 14158delT) and 1 large deletion (at least 1 kb-length deletion including exon 4), whereas 6 mutations had previously been reported in European populations. Conclusions:The genetic and clinical characteristics in Japanese patients with HAE may be similar to those in Western patients although our sample size is small and the authors identified 7 novel mutations.

Rapidly Progressive Glomerulonephritis due to Rifampicin Therapy

A 60-year-old man was treated with rifampicin, isoniazid, ethambutol and pyrazinamide for pulmonary tuberculosis. Acute renal failure developed 1 month after re-administration of rifampicin following 1 month’s interruption of treatment. A renal biopsy showed crescentic lesions characteristic of rapidly progressive glomerulonephritis. This is, to our knowledge, the fourth case of rapidly progressive crescentic glomerulonephritis associated with rifampicin treatment, which responded to methylprednisolone pulse therapy followed by oral steroid therapy.

A case of a flare-up of systemic lupus erythematosus and Sjogren's syndrome manifesting with cholecystitis secondary to pregnancy

Abstracta 30-year- old had a 2 year history of systemic lupus erythematosus (SLE) was transferred to our hospital by her gynecologist because of a low-grade fever and dyspnea after delivery. Since a blood culture performed upon admission showed the presence ofBacteroides caccae, she was diagnosed with sepsis. Antibiotic therapy did not resolve her symptoms and she further developed an acute abdomen with marked cholecystitis. This was believed to be due to a flare-up of SLE after the pregnancy, overlapped with Sjögren’s syndrome which was evidenced by sialaden biopsy. She showed a good response to combination therapy with steroids and antibiotics.