Diagnostic approach to neonatal and infantile cholestasis: A position paper by the SIGENP liver disease working group

Ranucci, Giusy; Corte, Claudia Della; Alberti, Daniele; Bondioni, Maria Pia; Boroni, Giovanni; Calvo, Pier Luigi; Cananzi, Mara; Candusso, M.; Clemente, Maria Grazia; D’Antiga, Lorenzo; Degrassi, Irene; Goyet, Jean de Ville de; Dato, Fabiola Di; Giorgio, Angelo Di; Vici, C. Dionisi; Ferrari, Federica; Francalanci, Paola; Fuoti, Maurizio; Fusaro, Fabio; Gaio, Paola; Grimaldi, Chiara; Iascone, Maria; Indolfi, Giuseppe; Iorio, Raffaele; Maggiore, Giuseppe; Mandato, Claudia; Matarazzo, Lorenza; Monti, Lidia; Mosca, Fabio; Nebbia, Gabriella; Nuti, Federica; Paolella, Gaetana; Pinon, Michele; Roggero, Paola; Sciveres, Marco; Serranti, Daniele; Spada, Marco; Vajro, Pietro; Nicastro, Emanuele

doi:10.1016/j.dld.2021.09.011

Cited by 18 publications

(13 citation statements)

References 99 publications

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“…If our reconstruction of pathogenic events is correct, this newborn would be, to our knowledge, the first patient presenting HH with prenatal onset. The high incidence of the HFE genetic defect suggests that other infants with the same defect may have suffered from iron overload during intrauterine life but remained undiagnosed because HH is not usually included in panels for the differential diagnosis of neonatal cholestasis (2,4). In our patient, the neurologic outcome was characterized by the persistence of axial hypotonia, EEG, and MR abnormalities.…”

Section: Discussionmentioning

confidence: 84%

“…Other causes of conjugated bilirubin accumulation include anatomic abnormalities of the biliary system, in primis biliary atresia, genetic disorders, metabolic diseases, and α1-antitrypsin deficiency. Less frequently, cholestasis can occur because of infections, endocrine disorders, toxin and drug exposures, vascular malformations, or neoplasms (2).…”

Section: Introductionmentioning

confidence: 99%

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Case Report: Dramatic Cholestasis Responsive to Steroids in a Newborn Homozygous for H63D HFE Variant

et al. 2022

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In a newborn with very precocious liver failure, cholestatic jaundice, and low γ-glutamyl transpeptidase, progressive hepatosplenomegaly induced a progressively worsening respiratory distress, that was successfully treated with steroids. Laboratory and genetic tests did not find any disease usually associated with neonatal cholestasis. However, the patient was positive for a homozygous mutation of the HFE gene, which is associated with hereditary hemochromatosis, a disease with typical onset in adulthood. Although no firm conclusions can be drawn from a single clinical case, this experience suggests that hereditary hemochromatosis could have played a role in the induction of this serious cholestasis, probably already arisen in the uterus. We suggest that hereditary hemochromatosis ought to be included in the panel of the possible causes of neonatal cholestasis and that steroids ought to be added to the pharmacological armamentarium for treating specific conditions which cause cholestasis in newborns.

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Section: Discussionmentioning

confidence: 84%

Section: Introductionmentioning

confidence: 99%

Case Report: Dramatic Cholestasis Responsive to Steroids in a Newborn Homozygous for H63D HFE Variant

et al. 2022

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“…To help this process, the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN) and the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN) published joint guidelines in 2017 [1]. In 2022, the Italian Society of pediatric gastroenterology, hepatology, and nutrition (SIGENP) liver disease group published guidelines on evaluation of neonatal cholestasis which was developed by pediatric hepatologists, surgeons, radiologists, neonatologists, a metabolic disease expert, pathologist, and geneticist [2 ▪ ]. We will briefly review both guideline papers and highlight their similarities and differences.…”

Section: Evaluation Of Neonatal Cholestasismentioning

confidence: 99%

The cholestatic infant: updates on diagnosis and genetics

Wehrman

Lee

2022

Current Opinion in Pediatrics

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Purpose of reviewCholestasis in infants can indicate a serious hepatobiliary disease and requires timely assessment, diagnosis and intervention to prevent progression to serious liver decompensation. This report aims to highlight recently published studies regarding diagnosis and treatment of cholestasis in infants.Recent findingsThe evaluation of neonatal cholestasis can be challenging, requiring the assessment of a broad differential diagnosis in timely fashion. The Italian Society of pediatric gastroenterology, hepatology, and nutrition position paper on the evaluation of neonatal cholestasis is reviewed and compared to other published guidelines. In biliary atresia, the most time-sensitive of these diagnoses, serum matrix metalloproteinase-7 was studied in Japanese infants with biliary atresia with excellent diagnostic performance characteristics. Genetic testing panels are an increasingly used tool to help identify causes of cholestasis. An American experience of genetic testing in large cohort of infants identified a definite or possible genetic diagnosis in 11% of cholestatic infants. In the treatment of prutitus in Alagille syndrome and progressive familial intrahepatic cholestasis the clinical studies of two newly Food and Drug Administration approved ileal bile acid transport inhibitors are discussed. New information on the prevalence of cytomegalovirus and idiopathic cholestasis as other etiologies of infant cholestasis is also reviewed. Lastly, new insight on potential maternal microbiome regulation on biliary disease in neonates on experimental biliary atresia models is discussed.SummaryCholestasis in infants requires timely diagnosis and intervention. There are exciting new diagnostic and treatment options now being studied which could help minimize the likelihood of advanced liver disease and development of serious complications.

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“…A multicenter study concluded that duct/ductal bile plugs and portal stromal edema were the strongest independent histologic predictors of obstruction[ 17 ]. The sensitivity and specificity of histological findings are over 90%, although histopathological findings similar to those seen in BA may also be observed with other neonatal cholestasis diseases [such as alpha 1 antitrypsin deficiency, progressive familial intrahepatic cholestasis (PFIC), cystic fibrosis], though not necessarily in the early period[ 49 , 50 ]. The absence of an extrahepatic biliary tree in intraoperative cholangiography is, therefore, the leading indicator of BA[ 2 ].…”

Section: Biliary Atresiamentioning

confidence: 99%