The Renal Sequelae of Alagille Syndrome as a Product of Altered Notch Signaling During Kidney Development

Romero, René

doi:10.1007/978-3-319-94571-2_8

Cited by 2 publications

(1 citation statement)

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“…Among 73 JAG1 -mutation positive children with renal involvement, dysplasia accounted for 59% of abnormalities, followed by renal tubular acidosis (9%), vesicoureteric reflux (8%), and obstructive uropathy (8%) [ 46 ]. Reno-vascular hypertension may also occur in 2–8% of patients [ 47 ]. End-stage renal disease progressing to renal transplantation is exceedingly rare in childhood.…”

Section: Features Of Alagille Syndrome and Relevance In Adulthoodmentioning

confidence: 99%

Management of adults with Alagille syndrome

et al. 2023

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Alagille syndrome (ALGS) is a complex rare genetic disorder that involves multiple organ systems and is historically regarded as a disease of childhood. Since it is inherited in an autosomal dominant manner in 40% of patients, it carries many implications for genetic counselling of patients and screening of family members. In addition, the considerable variable expression and absence of a clear genotype–phenotype correlation, results in a diverse range of clinical manifestations, even in affected individuals within the same family. With recent therapeutic advancements in cholestasis treatment and the improved survival rates with liver transplantation (LT), many patients with ALGS survive into adulthood. Although LT is curative for liver disease secondary to ALGS, complications secondary to extrahepatic involvement remain problematic lifelong. This review is aimed at providing a comprehensive review of ALGS to adult clinicians who will take over the medical care of these patients following transition, with particular focus on certain aspects of the condition that require lifelong surveillance. We also provide a diagnostic framework for adult patients with suspected ALGS and highlight key aspects to consider when determining eligibility for LT in patients with this syndrome.

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Section: Features Of Alagille Syndrome and Relevance In Adulthoodmentioning

confidence: 99%