Author/Editor		Kržišnik, C; Battelino, T
Title		Laronov sindrom
Translated title		Laron syndrome
Type		članek
Source		Slov Pediatr
Vol. and No.		Letnik 5, št. Suppl 2
Publication year		1998
Volume		str. 52-4
Language		slo
Abstract		Laron syndrome (LS) is an autosomal recessive disease due to various defects in the growth hormone (GH) receptor gene. The molecular defect leads to resistance to the activity of GH, inability to generate insulin-like growth factor IGF-I and clinical features of pituitary dwarfism. Epidemiology, etiology, clinical characteristics of LS and terapy with recombinant IGF-I are presented. The patient from Slovenia suffering of LS due mutation of exon 4: 36del C and successful tretment with recombinant IGF-I in six-years period are described.
Summary		Laronov sindrom (LS) je avtosomno recesivna dedna bolezen, ki je posledica različnih mutacij gena, ki določa strukturo receptorja za rastni hormon. Motnja na molekularnem nivoju povzroča neaktivnost rastnega hormona in nezadostno tvorbo insulinu podobnega rastnega faktorja IGF-I ter klinično hipofizne nanosomije. Predstavljena je epidemiologija, etiopatogeneza, klinična slika in zdravljenje bolezni z rekombinantnim IGF-I. Prikazan je primer bolnika z LS zaradi mutacije dela eksona 4 (4:36 del C) iz Slovenije in njegovo uspešno šestletno zdravljenje z IGF-I sintenziranim z genetskim inženiringom.
Descriptors		DWARFISM, PITUITARY SOMATOTROPIN INSULIN-LIKE GROWTH FACTOR I CHILD