A dyskeratosis congenita (DKC) patient treated with growth hormone

Kyoko Kataoka, Noriyuki Namba, Masaru Inoue, Tsuneo Morishima, Takashi Oono, Keiji Iwatsuki, Hiroyuki Tanaka

Research output: Contribution to journalArticle

Abstract

Dyskeratosis congenita (DKC) is an inherited disease characterized by the triad of mucosal leukoplakia, abnormal skin pigmentation and nail dystrophy, and it usually appears between the ages of 5 and 10 yr. Reports show that 19.5% of DKC patients have short stature (1). A major complication of DKC is progressive development of pancytopenia and there is also an increased incidence of malignancies. The X-linked form accounts for the majority of cases and is caused by mutations in the DKC1 gene. We report a 9 yr old boy, who presented with the triad of DKC, a mutation in the DKC1 gene and short stature, who was treated with human recombinant growth hormone (hGH). This is the first report of a DKC patient treated with hGH. Copyright

Original languageEnglish
Pages (from-to)77-80
Number of pages4
JournalClinical Pediatric Endocrinology
Volume14
Issue numberSUPPL. 24
DOIs
Publication statusPublished - 2005

Fingerprint

Dyskeratosis Congenita
Growth Hormone
Human Growth Hormone
Leukoplakia
Skin Pigmentation
Pancytopenia
Mutation
Nails
Genes
Incidence
Neoplasms

Keywords

  • DKC1
  • Dyskeratosis congenita (DKC)
  • Human recombinant growth hormone (HGH)
  • Short stature

ASJC Scopus subject areas

  • Endocrinology
  • Pediatrics, Perinatology, and Child Health

Cite this

Kataoka, K., Namba, N., Inoue, M., Morishima, T., Oono, T., Iwatsuki, K., & Tanaka, H. (2005). A dyskeratosis congenita (DKC) patient treated with growth hormone. Clinical Pediatric Endocrinology, 14(SUPPL. 24), 77-80. https://doi.org/10.1297/cpe.14.S24_77

A dyskeratosis congenita (DKC) patient treated with growth hormone. / Kataoka, Kyoko; Namba, Noriyuki; Inoue, Masaru; Morishima, Tsuneo; Oono, Takashi; Iwatsuki, Keiji; Tanaka, Hiroyuki.

In: Clinical Pediatric Endocrinology, Vol. 14, No. SUPPL. 24, 2005, p. 77-80.

Research output: Contribution to journalArticle

Kataoka, K, Namba, N, Inoue, M, Morishima, T, Oono, T, Iwatsuki, K & Tanaka, H 2005, 'A dyskeratosis congenita (DKC) patient treated with growth hormone', Clinical Pediatric Endocrinology, vol. 14, no. SUPPL. 24, pp. 77-80. https://doi.org/10.1297/cpe.14.S24_77
Kataoka, Kyoko ; Namba, Noriyuki ; Inoue, Masaru ; Morishima, Tsuneo ; Oono, Takashi ; Iwatsuki, Keiji ; Tanaka, Hiroyuki. / A dyskeratosis congenita (DKC) patient treated with growth hormone. In: Clinical Pediatric Endocrinology. 2005 ; Vol. 14, No. SUPPL. 24. pp. 77-80.
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