Clinical Variability After Partial External Biliary Diversion in Familial Intrahepatic Cholestasis 1 Deficiency

Squires, James E.; Çelik, Neslihan; Morris, Amy; Soltys, Kyle; Mazariegos, George; Shneider, Benjamin L.; Squires, Robert H.

doi:10.1097/mpg.0000000000001493

Cited by 17 publications

(21 citation statements)

References 46 publications

(77 reference statements)

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“…After successful drainage procedures, some patients develop bouts of cholestasis that can last months, akin to benign recurrent intrahepatic cholestasis. (35) As such, the timing of DXA scanning relative to intermittent cholestasis events could affect the DXA findings.…”

Section: Discussionmentioning

confidence: 99%

“…Limited numbers of participants who underwent biliary diversion precluded sub-analysis of bile flow after the procedure with regard to clinical response and vitamin D status. After successful drainage procedures, some patients develop bouts of cholestasis that can last months, akin to BRIC (35). As such, the timing of DXA scanning relative to intermittent cholestasis events could affect the DXA findings.…”

Section: Discussionmentioning

confidence: 99%

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Bone Density in Children With Chronic Liver Disease Correlates With Growth and Cholestasis

et al. 2019

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CIC patients had significant bone deficits that persisted after adjustment for height and weight and generally did not correlate with degree of cholestasis. In ALGS, low BMD and BMC reference Z-scores were explained by poor growth. Anthropometrically-adjusted DXA measures in ALGS correlate with markers of cholestasis and fx history. Reduced bone density in this population is multifactorial and related to growth, degree of cholestasis, fracture vulnerability, and contribution of underlying genetic etiology. This article is protected by copyright. All rights reserved.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Bone Density in Children With Chronic Liver Disease Correlates With Growth and Cholestasis

et al. 2019

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“…When medical therapy is insufficient, surgical intervention may be considered with the goal of bypassing the enterohepatic circulation and/or decreasing reabsorption of bile salts (Figure 2). Procedures including partial external biliary diversion (PEBD), partial internal biliary diversion, and ileal exclusion have generally, though not uniformly, resulted in sustained clinical improvement in PFIC patients[14-16]. A large surgical experience has been described in FIC1 deficiency[14-16].…”

Section: Resultsmentioning

confidence: 99%

Expanding etiology of progressive familial intrahepatic cholestasis

Henkel

Squires

Ayers

et al. 2019

WJH

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BACKGROUND Progressive familial intrahepatic cholestasis (PFIC) refers to a disparate group of autosomal recessive disorders that are linked by the inability to appropriately form and excrete bile from hepatocytes, resulting in a hepatocellular form of cholestasis. While the diagnosis of such disorders had historically been based on pattern recognition of unremitting cholestasis without other identified molecular or anatomic cause, recent scientific advancements have uncovered multiple specific responsible proteins. The variety of identified defects has resulted in an ever-broadening phenotypic spectrum, ranging from traditional benign recurrent jaundice to progressive cholestasis and end-stage liver disease. AIM To review current data on defects in bile acid homeostasis, explore the expanding knowledge base of genetic based diseases in this field, and report disease characteristics and management. METHODS We conducted a systemic review according to PRISMA guidelines. We performed a Medline/PubMed search in February-March 2019 for relevant articles relating to the understanding, diagnosis, and management of bile acid homeostasis with a focus on the family of diseases collectively known as PFIC. English only articles were accessed in full. The manual search included references of retrieved articles. We extracted data on disease characteristics, associations with other diseases, and treatment. Data was summarized and presented in text, figure, and table format. RESULTS Genetic-based liver disease resulting in the inability to properly form and secrete bile constitute an important cause of morbidity and mortality in children and increasingly in adults. A growing number of PFIC have been described based on an expanded understanding of biliary transport mechanism defects and the development of a common phenotype. CONCLUSION We present a summary of current advances made in a number of areas relevant to both the classically described FIC1 ( ATP8B1 ), BSEP ( ABCB11 ), and MDR3 ( ABCB4 ) transporter deficiencies, as well as more recently described gene mutations -- TJP2 ( TJP2 ), FXR ( NR1H4 ), MYO5B ( MYO5B ), and others which expand the etiology and understanding of PFIC-related cholestatic diseases and bile transport.

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“…Partial biliary diversion was first used by Whittington et al for the reversal of intractable pruritus in patients with intrahepatic cholestasis. In the literature, there are multiple reports confirming the benefit of biliary diversion (internal or external) in non‐cirrhotic PFIC‐1 patients for improved biochemistry, histological regression of fibrosis, and overall clinical improvement . The exact mechanism for this benefit is unknown.…”

Section: Discussionmentioning

confidence: 99%

“…Thereafter, he continued with persistent diarrhea that improved with cholestyramine, rifaximin, and pancrelipase but had no effect on steatosis: A biopsy improvement. 2,[9][10][11][12][13][14][15][16] The exact mechanism for this benefit is unknown.…”

Section: Casementioning

confidence: 99%

Biliary drainage as treatment for allograft steatosis following liver transplantation for PFIC‐1 disease: A single‐center experience

Alrabadi

Morotti

Valentino

et al. 2018

Pediatric Transplantation

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Clinical Variability After Partial External Biliary Diversion in Familial Intrahepatic Cholestasis 1 Deficiency

Cited by 17 publications

References 46 publications

Bone Density in Children With Chronic Liver Disease Correlates With Growth and Cholestasis

Bone Density in Children With Chronic Liver Disease Correlates With Growth and Cholestasis

Expanding etiology of progressive familial intrahepatic cholestasis

Biliary drainage as treatment for allograft steatosis following liver transplantation for PFIC‐1 disease: A single‐center experience

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