ALGS and Transition: The Prognosis into Adulthood

Baker, Alastair; Stenke, Emily

doi:10.1007/978-3-030-98808-1_5

Cited by 1 publication

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“…Due to the absence of long-term studies, the prognosis and natural history of renal disease associated with ALGS is unclear [ 48 ]. However, there are numerous reports of familial chronic kidney disease and/or medically refractory hypertension in adults with ALGS (median age 38y, range 16–62), that require renal replacement therapy and/or renal transplantation [ 11 , 49 – 57 ].…”

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%