Warning: Undefined variable $zfal in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Deprecated: str_replace(): Passing null to parameter #3 ($subject) of type array|string is deprecated in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 530
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 531
English Wikipedia
Nephropedia Template TP (
Twit Text
DeepDyve Pubget Overpricing |
lüll Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences Domene HM; Hwa V; Argente J; Wit JM; Camacho-Hubner C; Jasper HG; Pozo J; van Duyvenvoorde HA; Yakar S; Fofanova-Gambetti OV; Rosenfeld RGHorm Res 2009[]; 72 (3): 129-41The majority of insulin-like growth factor (IGF)-I and IGF-II circulate in the serum as a complex with the insulin-like growth factor binding protein (IGFBP)-3 or IGFBP-5, and an acid-labile subunit (ALS). The function of ALS is to prolong the half-life of the IGF-I-IGFBP-3/IGFBP-5 binary complexes. Fourteen different mutations of the human IGFALS gene have been identified in 17 patients, suggesting that ALS deficiency may be prevalent in a subset of patients with extraordinarily low serum levels of IGF-I and IGFBP-3 that remain abnormally low upon growth hormone stimulation. Postnatal growth was clearly affected. Commonly, the height standard deviation score before puberty was between -2 and -3, and approximately 1.4 SD shorter than the midparental height SDS. Pubertal delay was found in 50% of the patients. Circulating IGF-II, IGFBP-1, -2 and -3 levels were reduced, with the greatest reduction observed for IGFBP-3. Insulin insensitivity was a common finding, and some patients presented low bone mineral density. Human ALS deficiency represents a unique condition in which the lack of ALS proteins results in the disruption of the entire IGF circulating system. Despite a profound circulating IGF-I deficiency, there is only a mild impact on postnatal growth. The preserved expression of locally produced IGF-I might be responsible for the preservation of linear growth near normal limits.|Adolescent[MESH]|Adult[MESH]|Animals[MESH]|Birth Weight[MESH]|Body Height/genetics[MESH]|Bone and Bones/metabolism[MESH]|Calcification, Physiologic[MESH]|Carbohydrate Metabolism[MESH]|Carrier Proteins/genetics[MESH]|Child[MESH]|Child, Preschool[MESH]|Female[MESH]|Frameshift Mutation[MESH]|Glycoproteins/*deficiency/genetics[MESH]|Humans[MESH]|Infant, Newborn[MESH]|Insulin-Like Growth Factor Binding Protein 1/blood[MESH]|Insulin-Like Growth Factor Binding Protein 3/blood[MESH]|Insulin-Like Growth Factor I/metabolism[MESH]|Insulin-Like Growth Factor II/metabolism[MESH]|Male[MESH]|Mice[MESH]|Mice, Knockout[MESH]|Mutation, Missense[MESH] |