European Journal of Pediatrics

, Volume 167, Issue 12, pp 1389–1394 | Cite as

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

  • Shinichi Kobayashi
  • Shizuko Murayama
  • Sayaka Takanashi
  • Kumiko Takahashi
  • Sachiko Miyatsuka
  • Tomoko Fujita
  • Sadato Ichinohe
  • Yuichi Koike
  • Toshitaka Kohagizawa
  • Hirosumi Mori
  • Yasushi Deguchi
  • Kaoru Higuchi
  • Hiroaki Wakasugi
  • Tatsuya Sato
  • Yasuyuki Wada
  • Masato Nagata
  • Nobuhiko Okabe
  • Osamu Tatsuzawa
Original Paper

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.

Keywords

Survival rate Severe infection Antifungal prophylaxis Interferon-gamma Colitis Hematopoietic stem cell transplantation 

Abbreviations

CGD

chronic granulomatous disease

DHR

dihydrorhodamine123

TMP-SMX

trimethoprim-sulfamethoxazole

IFN-gamma

interferon-gamma

SD

standard deviation

HSCT

hematopoietic stem cell transplantation

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Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Shinichi Kobayashi
    • 1
  • Shizuko Murayama
    • 1
  • Sayaka Takanashi
    • 1
  • Kumiko Takahashi
    • 1
  • Sachiko Miyatsuka
    • 1
  • Tomoko Fujita
    • 1
  • Sadato Ichinohe
    • 1
  • Yuichi Koike
    • 1
  • Toshitaka Kohagizawa
    • 1
  • Hirosumi Mori
    • 1
  • Yasushi Deguchi
    • 1
  • Kaoru Higuchi
    • 1
  • Hiroaki Wakasugi
    • 1
  • Tatsuya Sato
    • 1
  • Yasuyuki Wada
    • 1
  • Masato Nagata
    • 1
  • Nobuhiko Okabe
    • 1
  • Osamu Tatsuzawa
    • 1
  1. 1.National Center for Child Health and DevelopmentDivision of Rheumatology and Infectious DiseasesTokyoJapan

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