title: Clinical features and prognoses of 23 patients with chronic granulomatous disease followed for 21 years by a single hospital in Japan.
abstract: In this paper, we examined the details of severe infections, treatment efficacies, and the prognoses of 23 Japanese patients with chronic granulomatous disease (CGD). We described the mean ages at diagnosis and follow-up, which were 2.8 years (range, 0.7-10 years) and 14.9 years (range, 0.2-28.4 years), respectively. There were three deaths, two from Aspergillus pneumonia and one from liver abscess. Eighteen of the 23 patients (78%) had a complete loss of gp91phox, and three had p22-phox and one had p67phox deficiencies. Aspergillus species were found in 45% of 174 severe infections. The mean height and weight of the 20 surviving patients were -0.8 +/- 1.3SD and -1.9 +/- 1.9SD below the means for age, respectively. Short stature and underweight (below the 10th percentile of the means) for age were seen in 22% and 17% of the patients, respectively. This growth retardation reflects the severity of the disease. At 20 years of age, there was 87% survival. Ongoing prophylaxis with trimethoprim-sulfamethoxazole (TMP-SMX) or antifungal drugs was given in 16 and 11 patients, respectively. Interferon-gamma (IFN-gamma) was given once a week to 14 patients. Four patients underwent hematopoietic stem cell transplantation (HSCT) and are currently well. There were infections observed in three of 21 identified related carriers of X-linked CGD. A carrier with a liver abscess had 5% normal neutrophils during the acute phase of infection, which returned to 40% normal neutrophils after recovery. The high survival rate in this hospital results from regular follow-up and prophylaxis with TMP-SMX and anti-fungal drugs beginning at the time of diagnosis, along with treatment with weekly IFN-gamma.
authors.affiliation: National Center for Child Health and Development, Division of Rheumatology and Infectious Diseases, 2-10-1, Ookura, Setagaya-ku, Tokyo, Japan. kobayashi-s@ncchd.go.jp
authors.forename: Shinichi
authors.initials: S
authors.lastname: Kobayashi
authors.forename: Shizuko
authors.initials: S
authors.lastname: Murayama
authors.forename: Sayaka
authors.initials: S
authors.lastname: Takanashi
authors.forename: Kumiko
authors.initials: K
authors.lastname: Takahashi
authors.forename: Sachiko
authors.initials: S
authors.lastname: Miyatsuka
authors.forename: Tomoko
authors.initials: T
authors.lastname: Fujita
authors.forename: Sadato
authors.initials: S
authors.lastname: Ichinohe
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Koike
authors.forename: Toshitaka
authors.initials: T
authors.lastname: Kohagizawa
authors.forename: Hirosumi
authors.initials: H
authors.lastname: Mori
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Deguchi
authors.forename: Kaoru
authors.initials: K
authors.lastname: Higuchi
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Wakasugi
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Sato
authors.forename: Yasuyuki
authors.initials: Y
authors.lastname: Wada
authors.forename: Masato
authors.initials: M
authors.lastname: Nagata
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okabe
authors.forename: Osamu
authors.initials: O
authors.lastname: Tatsuzawa
mesh_terms: D000293:Adolescent; D000328:Adult; D000890:Anti-Infective Agents / Q000008:administration & dosage*; D000935:Antifungal Agents / Q000008:administration & dosage; D000998:Antiviral Agents / Q000008:administration & dosage; D001228:Aspergillosis / Q000150:complications / Q000209:etiology / Q000401:mortality; D015415:Biomarkers / Q000378:metabolism; D001827:Body Height; D002648:Child; D002675:Child, Preschool; D004359:Drug Therapy, Combination; D005260:Female; D005500:Follow-Up Studies; D040181:Genetic Diseases, X-Linked / Q000150:complications; D006105:Granulomatous Disease, Chronic / Q000150:complications* / Q000201:enzymology / Q000235:genetics / Q000401:mortality / Q000628:therapy; D006130:Growth Disorders / Q000209:etiology; D006776:Hospitals, Pediatric; D006783:Hospitals, State; D006801:Humans; D007371:Interferon-gamma / Q000008:administration & dosage; D007564:Japan / Q000453:epidemiology; D008297:Male; D008562:Membrane Glycoproteins / Q000172:deficiency; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases / Q000172:deficiency; D009894:Opportunistic Infections / Q000209:etiology* / Q000382:microbiology / Q000401:mortality / Q000517:prevention & control*; D010750:Phosphoproteins / Q000172:deficiency; D011379:Prognosis; D033581:Stem Cell Transplantation; D016019:Survival Analysis; D013851:Thinness / Q000209:etiology; D015662:Trimethoprim, Sulfamethoxazole Drug Combination / Q000008:administration & dosage
chemical_list: D000890:Anti-Infective Agents; D000935:Antifungal Agents; D000998:Antiviral Agents; D015415:Biomarkers; D008562:Membrane Glycoproteins; D010750:Phosphoproteins; C079789:neutrophil cytosol factor 67K; D015662:Trimethoprim, Sulfamethoxazole Drug Combination; D007371:Interferon-gamma; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases; C086986:CYBA protein, human