PMID- 36379227
OWN - NLM
STAT- MEDLINE
DCOM- 20221118
LR  - 20221118
IS  - 1439-3824 (Electronic)
IS  - 0300-8630 (Print)
IS  - 0300-8630 (Linking)
VI  - 234
IP  - 6
DP  - 2022 Nov
TI  - Haploidentical Hematopoietic Stem Cell Transplantation in a 3-Year-Old Girl with 
      Congenital Amegakaryocytic Thrombocytopenia: A Case Report.
PG  - 388-390
LID - 10.1055/a-1933-2583 [doi]
AB  - Congenital amegakaryocytic thrombocytopenia (CAMT) is an autosomal recessive 
      disorder characterized by severe thrombocytopenia that presents soon after birth 
      and is usually not accompanied by specific somatic malformations [Germeshausen M, 
      Ballmaier M. Best Pract Res Clin Haematol 2021; 34: 101286]. CAMT is more 
      prevalent in females than males [Ballmaier M, Germeshausen M. Semin Thromb Hemost 
      2011; 37: 673-681; Germeshausen M, Ballmaier M. Haematologica 2021; 106: 
      2439-2448], in contrast to other congenital bone marrow failure syndromes. 
      Patients with CAMT also exhibit cardiac malformations, cerebellar hypoplasia, 
      growth retardation, and a distinctive facial appearance [Yldrm A T, Gunes B T, 
      Oymak Y, et al. Blood Coagul Fibrinolysis 2015; 26: 337-341], although it remains 
      unknown whether these are related to CAMT. Mutations in the MPL gene, which 
      encodes the thrombopoietin receptor, are the pathogenetic cause of CAMT 
      [Germeshausen M, Ballmaier M. Haematologica 2021; 106: 2439-2448]. Since 
      thrombopoietin is involved in the maintenance of hematopoietic stem cells and 
      megakaryocyte development [Germeshausen M, Ballmaier M. Best Pract Res Clin 
      Haematol 2021; 34: 101286], CAMT may eventually manifest as a hematopoietic 
      failure. Currently, allogeneic hematopoietic stem cell transplantation (HSCT) is 
      the only cure for CAMT. Human leukocyte antigen (HLA)-matched siblings are the 
      first-choice donors for HSCT because transplantations from matched unrelated 
      donors have a low success rate [King S, Germeshausen M, Strauss G, et al. Br J 
      Haematol 2005; 131: 636-644]. Cancio et al. [Cancio M, Hebert K, Kim S, et al. 
      Transplant Cell Ther 2022; 28: 101 e101-101 e106] reviewed 86 patients treated 
      over 18 years and reported that although HLA-mismatched donors can extend the 
      survival of CAMT patients, HLA-matched donors are preferred. The present report 
      describes the successful treatment of a 3-year-old girl with CAMT using 
      haploidentical allogeneic HSCT from the father, even though he harbored a mutant 
      MPL gene.
CI  - The Author(s). This is an open access article published by Thieme under the terms 
      of the Creative Commons Attribution-NonDerivative-NonCommercial-License, 
      permitting copying and reproduction so long as the original work is given 
      appropriate credit. Contents may not be used for commercial purposes, or adapted, 
      remixed, transformed or built upon. 
      (https://creativecommons.org/licenses/by-nc-nd/4.0/).
FAU - Wang, Sisi
AU  - Wang S
AD  - Department of Pediatrics, Sichuan University West China Second University 
      Hospital, Chengdu, China.
AD  - Sichuan University, Key Laboratory of Birth Defects and Related Diseases of Women 
      and Children, Sichuan, China.
FAU - Yang, Xue
AU  - Yang X
AD  - Department of Pediatrics, Sichuan University West China Second University 
      Hospital, Chengdu, China.
AD  - Sichuan University, Key Laboratory of Birth Defects and Related Diseases of Women 
      and Children, Sichuan, China.
FAU - Ai, Yuan
AU  - Ai Y
AD  - Department of Pediatrics, Sichuan University West China Second University 
      Hospital, Chengdu, China.
AD  - Sichuan University, Key Laboratory of Birth Defects and Related Diseases of Women 
      and Children, Sichuan, China.
FAU - Zhu, Yiping
AU  - Zhu Y
AD  - Department of Pediatrics, Sichuan University West China Second University 
      Hospital, Chengdu, China.
AD  - Sichuan University, Key Laboratory of Birth Defects and Related Diseases of Women 
      and Children, Sichuan, China.
LA  - eng
PT  - Case Reports
PT  - Journal Article
TT  - Haploide hamatopoetische Stammzelltransplantation zur Behandlung der kongenitalen 
      megalokalytischen Thrombozytopenie bei Madchen.
DEP - 20221115
PL  - Germany
TA  - Klin Padiatr
JT  - Klinische Padiatrie
JID - 0326144
RN  - Congenital amegakaryocytic thrombocytopenia
SB  - IM
MH  - Male
MH  - Female
MH  - Humans
MH  - Child, Preschool
MH  - Congenital Bone Marrow Failure Syndromes
MH  - Megakaryocytes/pathology
MH  - *Thrombocytopenia/diagnosis/genetics/therapy
MH  - *Hematopoietic Stem Cell Transplantation
PMC - PMC9666055
COIS- Disclosure The authors report no conflicts of interest in this work.
EDAT- 2022/11/16 06:00
MHDA- 2022/11/19 06:00
PMCR- 2022/11/01
CRDT- 2022/11/15 19:13
PHST- 2022/11/15 19:13 [entrez]
PHST- 2022/11/16 06:00 [pubmed]
PHST- 2022/11/19 06:00 [medline]
PHST- 2022/11/01 00:00 [pmc-release]
AID - klinpadiatr1597 [pii]
AID - 10.1055/a-1933-2583 [doi]
PST - ppublish
SO  - Klin Padiatr. 2022 Nov;234(6):388-390. doi: 10.1055/a-1933-2583. Epub 2022 Nov 
      15.