α1-Antitrypsin Deficiency (Pi SZ) and Biliary Atresia

Tolaymat, Naser; Figueroa-Colón, Reinaldo; Mitros, Frank A.

doi:10.1097/00005176-198908000-00020

Cited by 6 publications

(5 citation statements)

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“…In most infants with BA, diagnosis is not difficult when supported by appropriate clinical and histopathologic features. However, case reports of BA exist in association with other conditions, including PiZZ A1ATD, cystic fibrosis, and TPN-induced cholestasis (6,7,10). In ambiguous circumstances further available clinical investigations have included radionucleotide dynamic studies or duodenal intubation to demonstrate presence of isotope or bile in the duodenum (25).…”

Section: Discussionmentioning

confidence: 99%

“…This battery of investigations, including liver biopsy, leads to a correct diagnosis of BA in around 86% of young infants (4,5). The reasons for a lack of definite diagnosis include equivocal histopathologic features or information suggesting alternative conditions, such as a-1-antitrypsin deficiency (A1ATD), Alagille syndrome, neonatal sclerosing cholangitis (NSC), cystic fibrosis, or exposure to total parenteral nutrition (TPN)all of which can mimic BA (1,(6)(7)(8)(9)(10). In such cases, if unnecessary laparotomy is to be avoided, additional delineation of biliary tract anatomy may be required.…”

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confidence: 99%

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Selective Use of Endoscopic Retrograde Cholangiopancreatography in the Diagnosis of Biliary Atresia in Infants Younger Than 100 Days

Shanmugam¹,

Harrison

Devlin

et al. 2009

J. pediatr. gastroenterol. nutr.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Selective Use of Endoscopic Retrograde Cholangiopancreatography in the Diagnosis of Biliary Atresia in Infants Younger Than 100 Days

Shanmugam¹,

Harrison

Devlin

et al. 2009

J. pediatr. gastroenterol. nutr.

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“…Serum a-1-antitrypsin concentrations alone are an insufficient test since a-1antitrypsin is an acute phase reactant and during illnesses may be elevated (136,137). Of note, there have been few case reports of the concurrence of a-1-antitrypsin deficiency and BA (138,139).…”

Section: Alpha-1-antitrypsin Deficiencymentioning

confidence: 99%

Guideline for the Evaluation of Cholestatic Jaundice in Infants

Fawaz

Baumann

Ekong

et al. 2017

J. pediatr. gastroenterol. nutr.

382

340

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Cholestatic jaundice in infancy affects approximately 1 in every 2500 term infants and is infrequently recognized by primary providers in the setting of physiologic jaundice. Cholestatic jaundice is always pathologic and indicates hepatobiliary dysfunction. Early detection by the primary care physician and timely referrals to the pediatric gastroenterologist/hepatologist are important contributors to optimal treatment and prognosis. The most common causes of cholestatic jaundice in the first months of life are biliary atresia (25%-40%) followed by an expanding list of monogenic disorders (25%), along with many unknown or multifactorial (eg, parenteral nutrition-related) causes, each of which may have time-sensitive and distinct treatment plans. Thus, these guidelines can have an essential role for the evaluation of neonatal cholestasis to optimize care. The recommendations from this clinical practice guideline are based upon review and analysis of published literature and the combined experience of the authors. The committee recommends that any infant noted to be jaundiced after 2 weeks of age be evaluated for cholestasis with measurement of total and direct serum bilirubin, and that an elevated serum direct bilirubin level (direct bilirubin levels >1.0 mg/dL or >17 μmol/L) warrants timely consideration for evaluation and referral to a pediatric gastroenterologist or hepatologist. Of note, current differential diagnostic plans now incorporate consideration of modern broad-based next-generation DNA sequencing technologies in the proper clinical context. These recommendations are a general guideline and are not intended as a substitute for clinical judgment or as a protocol for the care of all infants with cholestasis. Broad implementation of these recommendations is expected to reduce the time to the diagnosis of pediatric liver diseases, including biliary atresia, leading to improved outcomes.

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“…Nord et al and Tolaymat et al previously report separate cases of patients found to have concomitant diagnoses of A1AT and BA. However, successful biliary drainage in this situation has not been reported to date and could not be achieved in either aforementioned patient; one patient underwent liver transplantation [ 11 ], and the other was being evaluated for future liver transplantation [ 12 ] by 9 months of age. Operative cholangiogram in patients known to have A1AT deficiency is not typically performed as the cholestasis associated with isolated A1AT is not mechanical.…”

Section: Discussionmentioning

confidence: 99%