-
Je něco špatně v tomto záznamu ?
Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy
L. Toni, P. Dušátková, D. Novotná, D. Zemková, Š. Průhová, J. Lebl,
Jazyk angličtina Země Německo
Typ dokumentu kazuistiky
PubMed
31199775
DOI
10.1515/jpem-2019-0107
Knihovny.cz E-zdroje
- MeSH
- fatální výsledek MeSH
- kojenec MeSH
- lamin typ A genetika MeSH
- lidé MeSH
- lidský růstový hormon aplikace a dávkování nedostatek MeSH
- mutace * MeSH
- nanismus farmakoterapie etiologie MeSH
- předškolní dítě MeSH
- progerie komplikace genetika patologie MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- Publikační typ
- kazuistiky MeSH
Background Hutchinson-Gilford progeria syndrome (HGPS) is a rare disease caused by pathogenic variants in the LMNA gene, which leads to premature aging. The median life expectancy is shortened to 13 years due to cardiovascular complications. Case report We present a boy born with a pathogenic LMNA variant c.433G > A, which causes atypical progeria syndrome (APS) and was previously described in one single patient. When investigated for poor growth prior to the diagnosis of APS, his laboratory tests revealed growth hormone (GH) deficiency and magnetic resonance imaging (MRI) of the midbrain showed partial empty sella. GH treatment had only a limited and transient effect. His first ischemic complication manifested at age 4.2 years; at the age of 7 years, he had a fatal haemorrhagic stroke. Conclusion To the best of our knowledge, this is the first patient with APS showing partial empty sella and GH deficiency that might have contributed to his poor growth. GH failed to improve long-term outcome.
- 000
- 00000naa a2200000 a 4500
- 001
- bmc19044756
- 003
- CZ-PrNML
- 005
- 20200115104045.0
- 007
- ta
- 008
- 200109s2019 gw f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1515/jpem-2019-0107 $2 doi
- 035 __
- $a (PubMed)31199775
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a gw
- 100 1_
- $a Toni, Ledjona $u Department of Paediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Praha, Czech Republic.
- 245 10
- $a Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy / $c L. Toni, P. Dušátková, D. Novotná, D. Zemková, Š. Průhová, J. Lebl,
- 520 9_
- $a Background Hutchinson-Gilford progeria syndrome (HGPS) is a rare disease caused by pathogenic variants in the LMNA gene, which leads to premature aging. The median life expectancy is shortened to 13 years due to cardiovascular complications. Case report We present a boy born with a pathogenic LMNA variant c.433G > A, which causes atypical progeria syndrome (APS) and was previously described in one single patient. When investigated for poor growth prior to the diagnosis of APS, his laboratory tests revealed growth hormone (GH) deficiency and magnetic resonance imaging (MRI) of the midbrain showed partial empty sella. GH treatment had only a limited and transient effect. His first ischemic complication manifested at age 4.2 years; at the age of 7 years, he had a fatal haemorrhagic stroke. Conclusion To the best of our knowledge, this is the first patient with APS showing partial empty sella and GH deficiency that might have contributed to his poor growth. GH failed to improve long-term outcome.
- 650 _2
- $a předškolní dítě $7 D002675
- 650 _2
- $a nanismus $x farmakoterapie $x etiologie $7 D004392
- 650 _2
- $a fatální výsledek $7 D017809
- 650 _2
- $a lidský růstový hormon $x aplikace a dávkování $x nedostatek $7 D019382
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a kojenec $7 D007223
- 650 _2
- $a lamin typ A $x genetika $7 D034904
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 12
- $a mutace $7 D009154
- 650 _2
- $a progerie $x komplikace $x genetika $x patologie $7 D011371
- 655 _2
- $a kazuistiky $7 D002363
- 700 1_
- $a Dušátková, Petra $u Department of Paediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Praha, Czech Republic.
- 700 1_
- $a Novotná, Dana $u Department of Paediatrics, Faculty of Medicine, Masaryk University and University Hospital Brno, Brno, Czech Republic.
- 700 1_
- $a Zemková, Daniela $u Department of Paediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Praha, Czech Republic.
- 700 1_
- $a Průhová, Štěpánka $u Department of Paediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Praha, Czech Republic.
- 700 1_
- $a Lebl, Jan $u Department of Paediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Praha, Czech Republic.
- 773 0_
- $w MED00180365 $t Journal of pediatric endocrinology & metabolism : JPEM $x 2191-0251 $g Roč. 32, č. 7 (2019), s. 775-779
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/31199775 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y a $z 0
- 990 __
- $a 20200109 $b ABA008
- 991 __
- $a 20200115104418 $b ABA008
- 999 __
- $a ok $b bmc $g 1483025 $s 1083429
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2019 $b 32 $c 7 $d 775-779 $e 2019Jul26 $i 2191-0251 $m Journal of pediatric endocrinology & metabolism $n J Pediatr Endocrinol Metab $x MED00180365
- LZP __
- $a Pubmed-20200109