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2015 ; 94
(1
): 51-9
Nephropedia Template TP
gab.com Text
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English Wikipedia
Clinical features, genetics, and outcome of pediatric patients with
hemophagocytic lymphohistiocytosis in Korea: report of a nationwide survey from
Korea Histiocytosis Working Party
#MMPMID24935083
Koh KN
; Im HJ
; Chung NG
; Cho B
; Kang HJ
; Shin HY
; Lyu CJ
; Yoo KH
; Koo HH
; Kim HJ
; Baek HJ
; Kook H
; Yoon HS
; Lim YT
; Kim HS
; Ryu KH
; Seo JJ
Eur J Haematol
2015[Jan]; 94
(1
): 51-9
PMID24935083
show ga
BACKGROUND: We analyzed a nationwide registry of pediatric patients with
hemophagocytic lymphohistiocytosis (HLH) in Korea to assess the clinical and
genetic features and treatment outcomes in pediatric HLH. METHODS: The Korea
Histiocytosis Working Party retrospectively analyzed data on 251 pediatric
patients diagnosed with HLH between 1996 and 2011. RESULTS: In the study cohort,
25 cases were categorized with familial HLH, 64 with presumed secondary HLH, and
162 with unspecified HLH. Of 217 evaluable patients, 91 (42%) had concomitant
Epstein-Barr virus infection. Of 238 evaluable patients, central nervous system
(CNS) involvement, which was more frequent in the familial group, was evident in
81 cases (34%). Genetic tests revealed a predominant UNC13D mutation with a high
incidence of two recurrent splicing mutations (c.118-308C>T and c.754-1G>C). The
5-yr overall survival rate was 68% (38% in the familial group and 81% in the
presumed secondary group). The 5-yr overall survival rate among 32 patients who
underwent allogeneic hematopoietic stem cell transplantation was 64%. In
multivariate analysis, a younger age at diagnosis, severe transaminasemia, and a
coagulation abnormality were independent prognostic factors for survival.
Responses during initial treatments were also significant indicators of outcome.
CONCLUSION: Our study showed the unique predominance of a UNC13D mutation and
vulnerability to Epstein-Barr virus infection in Korean children with HLH and
emphasizes the prognostic significance of age, liver dysfunction, and treatment
responses in this disease. A multicenter prospective trial that builds on the
present results is warranted to identify subgroups of patients with a poor
prognosis and identify optimal treatments.