PMID- 32144686
OWN - NLM
STAT- MEDLINE
DCOM- 20200924
LR  - 20200924
IS  - 1563-258X (Electronic)
IS  - 0043-5341 (Print)
IS  - 0043-5341 (Linking)
VI  - 170
IP  - 5-6
DP  - 2020 Apr
TI  - New developments in the management of achondroplasia.
PG  - 104-111
LID - 10.1007/s10354-020-00741-6 [doi]
AB  - Achondroplasia is the most common form of disproportionate short stature. 
      A dominantly inherited FGFR3 mutation permanently activates the fibroblast growth 
      factor receptor 3 (FGFR3) and its downstream mitogen-activated protein kinase 
      (MAPK) signalling pathway. This inhibits chondrocyte differentiation and puts 
      a break on growth plate function, in addition to causing serious medical 
      complications such as foramen magnum and spinal stenosis and upper airway 
      narrowing. A great deal has been learned about complications and consequences of 
      FGFR3 activation and management guidance is evolving aimed to reduce the 
      increased mortality and morbidity in this condition, particularly deaths from 
      spinal cord compression and sleep apnoea in infants and small children. To date, 
      no drugs are licensed for treatment of achondroplasia. Here, we report on the 
      various substances in the drug development pipeline which target elements in 
      molecular disease mechanism such as FGF (fibroblast growth factor) ligands, 
      FGFR3, MAPK signalling as well as the C‑type natriuretic peptide receptor NPR‑B 
      (natriuretic peptide receptor B).
FAU - Hogler, Wolfgang
AU  - Hogler W
AD  - Department of Paediatrics and Adolescent Medicine, Johannes Kepler University 
      Linz, Krankenhausstrasse 26-30, 4020, Linz, Austria. 
      wolfgang.hoegler@kepleruniklinikum.at.
AD  - Institute of Metabolism and Systems Research, University of Birmingham, 
      Birmingham, UK. wolfgang.hoegler@kepleruniklinikum.at.
FAU - Ward, Leanne M
AU  - Ward LM
AD  - Departments of Paediatrics and Surgery, University of Ottawa, Ottawa, Canada.
AD  - Division of Endocrinology and Metabolism, The Children's Hospital of Eastern 
      Ontario, Ottawa, Ontario, Canada.
LA  - eng
PT  - Journal Article
PT  - Review
TT  - Neue Entwicklungen im Management der Achondroplasie.
DEP - 20200306
PL  - Austria
TA  - Wien Med Wochenschr
JT  - Wiener medizinische Wochenschrift (1946)
JID - 8708475
SB  - IM
MH  - Achondroplasia/*genetics
MH  - Cell Differentiation
MH  - Child
MH  - Humans
PMC - PMC7098936
OTO - NOTNLM
OT  - C‑type natriuretic peptide
OT  - Fibroblast growth factor receptor
OT  - Foramen magnum
OT  - Growth
OT  - Spinal stenosis
COIS- W. Hogler is principle investigator in multicentre clinical trials sponsored by 
      Ascendis Pharma. L. Ward declares that she has no competing interests.
EDAT- 2020/03/08 06:00
MHDA- 2020/09/25 06:00
PMCR- 2020/03/06
CRDT- 2020/03/08 06:00
PHST- 2019/12/04 00:00 [received]
PHST- 2020/02/13 00:00 [accepted]
PHST- 2020/03/08 06:00 [pubmed]
PHST- 2020/09/25 06:00 [medline]
PHST- 2020/03/08 06:00 [entrez]
PHST- 2020/03/06 00:00 [pmc-release]
AID - 10.1007/s10354-020-00741-6 [pii]
AID - 741 [pii]
AID - 10.1007/s10354-020-00741-6 [doi]
PST - ppublish
SO  - Wien Med Wochenschr. 2020 Apr;170(5-6):104-111. doi: 10.1007/s10354-020-00741-6. 
      Epub 2020 Mar 6.