Clinical features and prognoses of 23 patients with chronic granulomatous disease followed for 21 years by a single hospital in Japan

Autor: Yasushi Deguchi, Hirosumi Mori, Shizuko Murayama, Tomoko Fujita, Sayaka Takanashi, Toshitaka Kohagizawa, Kumiko Takahashi, Sachiko Miyatsuka, Shinichi Kobayashi, Masato Nagata, Nobuhiko Okabe, Osamu Tatsuzawa, Yuichi Koike, Yasuyuki Wada, Kaoru Higuchi, Sadato Ichinohe, Tatsuya Sato, Hiroaki Wakasugi
Rok vydání: 2008
Předmět:
Male
Antifungal Agents
medicine.medical_treatment
Hematopoietic stem cell transplantation
Granulomatous Disease
Chronic
Chronic granulomatous disease
Anti-Infective Agents
Japan
Child
Growth Disorders
Membrane Glycoproteins
Genetic Diseases
X-Linked
Hospitals
Pediatric
Prognosis
Child
Preschool
NADPH Oxidase 2
Chemoprophylaxis
Drug Therapy
Combination
Female
Underweight
medicine.symptom
Adult
medicine.medical_specialty
Adolescent
Opportunistic Infections
Antiviral Agents
Hospitals
State
Short stature
Interferon-gamma
Thinness
Internal medicine
Trimethoprim
Sulfamethoxazole Drug Combination
medicine
Aspergillosis
Humans
Survival rate
Survival analysis
business.industry
NADPH Oxidases
Phosphoproteins
medicine.disease
Survival Analysis
Body Height
Surgery
Pediatrics
Perinatology and Child Health
business
Biomarkers
Follow-Up Studies
Stem Cell Transplantation
Liver abscess
Zdroj: European Journal of Pediatrics. 167:1389-1394
ISSN: 1432-1076
0340-6199
Popis: 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.
Databáze: OpenAIRE
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