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

J 2019

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

TONI, Ledjona, Petra DUŠÁTKOVÁ, Dana NOVOTNÁ, Daniela ZEMKOVÁ, Štěpánka PRŮHOVÁ et. al.

Základní údaje

Originální název

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

Autoři

TONI, Ledjona (203 Česká republika, garant), Petra DUŠÁTKOVÁ (203 Česká republika), Dana NOVOTNÁ (203 Česká republika, domácí), Daniela ZEMKOVÁ, Štěpánka PRŮHOVÁ a Jan LEBL (203 Česká republika)

Vydání

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, BERLIN, WALTER DE GRUYTER GMBH, 2019, 0334-018X

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30209 Paediatrics

Stát vydavatele

Německo

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 1.278

Kód RIV

RIV/00216224:14110/19:00110496

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.1515/jpem-2019-0107

UT WoS

000474203700016

Klíčová slova anglicky

atypical progeria syndrome; growth hormone deficiency; LMNA

Štítky

14110317, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 26. 8. 2019 14:19, Soňa Böhmová

Anotace

V originále

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.A33G > 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. Gil 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. Gil failed to improve long-term outcome.

Citovat

TONI, Ledjona, Petra DUŠÁTKOVÁ, Dana NOVOTNÁ, Daniela ZEMKOVÁ, Štěpánka PRŮHOVÁ a Jan LEBL. 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. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM. BERLIN: WALTER DE GRUYTER GMBH, 2019, roč. 32, č. 7, s. 775-779. ISSN 0334-018X. Dostupné z: https://dx.doi.org/10.1515/jpem-2019-0107.

@article{1550518,
   author = {Toni, Ledjona and Dušátková, Petra and Novotná, Dana and Zemková, Daniela and Průhová, Štěpánka and Lebl, Jan},
   article_location = {BERLIN},
   article_number = {7},
   doi = {http://dx.doi.org/10.1515/jpem-2019-0107},
   keywords = {atypical progeria syndrome; growth hormone deficiency; LMNA},
   language = {eng},
   issn = {0334-018X},
   journal = {JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM},
   title = {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},
   url = {http://dx.doi.org/10.1515/jpem-2019-0107},
   volume = {32},
   year = {2019}
}

TY  - JOUR
ID  - 1550518
AU  - Toni, Ledjona - Dušátková, Petra - Novotná, Dana - Zemková, Daniela - Průhová, Štěpánka - Lebl, Jan
PY  - 2019
TI  - 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
JF  - JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
VL  - 32
IS  - 7
SP  - 775-779
EP  - 775-779
PB  - WALTER DE GRUYTER GMBH
SN  - 0334018X
KW  - atypical progeria syndrome
KW  - growth hormone deficiency
KW  - LMNA
UR  - http://dx.doi.org/10.1515/jpem-2019-0107
L2  - http://dx.doi.org/10.1515/jpem-2019-0107
N2  - 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.A33G > 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. Gil 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. Gil failed to improve long-term outcome.
ER  -

TONI, Ledjona, Petra DUŠÁTKOVÁ, Dana NOVOTNÁ, Daniela ZEMKOVÁ, Štěpánka PRŮHOVÁ a Jan LEBL. Short stature in a boy with atypical progeria syndrome due to LMNA c.433G \&{}gt; A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy. \textit{JOURNAL OF PEDIATRIC ENDOCRINOLOGY \&{}amp; METABOLISM}. BERLIN: WALTER DE GRUYTER GMBH, 2019, roč.~32, č.~7, s.~775-779. ISSN~0334-018X. Dostupné z: https://dx.doi.org/10.1515/jpem-2019-0107.

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