A dyskeratosis congenita (DKC) patient treated with growth hormone

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

doi:10.1297/cpe.14.S24_77

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 journal › Article › peer-review

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 language	English
Pages (from-to)	77-80
Number of pages	4
Journal	clinical pediatric endocrinology
Volume	14
Issue number	SUPPL. 24
DOIs	https://doi.org/10.1297/cpe.14.S24_77
Publication status	Published - 2005

Keywords

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

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Endocrinology, Diabetes and Metabolism
Endocrinology

UN SDGs

This output contributes to the following Sustainable Development Goal(s)

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title = "A dyskeratosis congenita (DKC) patient treated with growth hormone",

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",

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author = "Kyoko Kataoka and Noriyuki Namba and Masaru Inoue and Tsuneo Morishima and Takashi Oono and Keiji Iwatsuki and Hiroyuki Tanaka",

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AU - Kataoka, Kyoko

AU - Namba, Noriyuki

AU - Inoue, Masaru

AU - Morishima, Tsuneo

AU - Oono, Takashi

AU - Iwatsuki, Keiji

AU - Tanaka, Hiroyuki

PY - 2005

Y1 - 2005

N2 - 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

AB - 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

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KW - Dyskeratosis congenita (DKC)

KW - Human recombinant growth hormone (HGH)

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A dyskeratosis congenita (DKC) patient treated with growth hormone

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

Access to Document

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