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 | |
| Publication status | Published - 2005 |
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Keywords
- DKC1
- Dyskeratosis congenita (DKC)
- Human recombinant growth hormone (HGH)
- Short stature
ASJC Scopus subject areas
- Endocrinology
- Pediatrics, Perinatology, and Child Health
Cite this
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 journal › Article
}
TY - JOUR
T1 - A dyskeratosis congenita (DKC) patient treated with growth hormone
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
KW - DKC1
KW - Dyskeratosis congenita (DKC)
KW - Human recombinant growth hormone (HGH)
KW - Short stature
UR - http://www.scopus.com/inward/record.url?scp=33750039657&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33750039657&partnerID=8YFLogxK
U2 - 10.1297/cpe.14.S24_77
DO - 10.1297/cpe.14.S24_77
M3 - Article
AN - SCOPUS:33750039657
VL - 14
SP - 77
EP - 80
JO - Clinical Pediatric Endocrinology
JF - Clinical Pediatric Endocrinology
SN - 0918-5739
IS - SUPPL. 24
ER -