Deficits in Size-Adjusted Bone Mass in Children with Alagille Syndrome

Abstract

Children with AGS have deficits in bone size and bone mass relative to body size. Modifiable factors, such as treatment of malabsorption should be explored as an early focus of AGS care to prevent bone fragility.

Alagille syndrome: pathogenesis, diagnosis and management

“…10,31 Malabsorption, leading to failure to thrive, and malnutrition is likely to be the main cause, but there may be limitations to growth potential regardless of nutritional status. 32 Hypothyroidism has been described in some ALGS patients, and delayed puberty can occur. Growth hormone insensitivity has also been reported in children, 33 and there are, therefore, a number of possible reasons to explain short stature in ALGS.…”

Notch and the Skeleton

“…Children with Alagille syndrome have decreased bone area and decreased bone mineralization. This can be attributed to the cholestatic liver disease, which can cause liver failure and malnutrition (99).…”

Bone Regeneration

“…Similar to both BMP and Wnt signaling, the notch-signaling pathway is a developmentally conserved cell-to-cell signaling pathway [137] that has extensively been shown to regulate embryological bone formation [138][139][140][141][142][143][144][145][146]. ALGS patients present with decreased bone mass and an increased risk of fracture and delays in fracture repair [150,151]. ALGS patients present with decreased bone mass and an increased risk of fracture and delays in fracture repair [150,151].…”