Abstract

BackgroundNeonatal physiological jaundice is a common benign condition that rarely extends behind the second week of life; however, it may interfere with the diagnosis of a pathological condition termed neonatal cholestasis (NC). The latter is a critical, uncommon problem characterized by conjugated hyperbilirubinaemia. This review aims to highlight the differences between physiological and pathological jaundice, identify different causes of NC, and provide a recent approach to diagnosis and management of this serious condition.Main textNC affects 1/2500 live births, resulting in life-threatening complications due to associated hepatobiliary or metabolic abnormalities. NC is rarely benign and indicates the presence of severe underlying disease. If jaundice extends more than 14 days in full-term infants or 21 days in preterm infants, the serum bilirubin level fractionated into conjugated (direct) and unconjugated (indirect) bilirubin should be measured. A stepwise diagnostic approach starts with obtaining a complete history, and a physical examination which are valuable for the rapid diagnosis of the underlying disease. The most frequently diagnosed causes of NC are biliary atresia (BA) and idiopathic neonatal hepatitis (INH). The early diagnosis of NC ensures more accurate management and better prognosis. Despite the unavailability of any specific treatments for some causes of NC, the patient can benefit from nutritional management and early medical intervention. Future research should attempt to shed light on methods of screening for NC, especially for causes that can be effectively treated either through proper nutritional support, appropriate chemotherapeutic management, or timely surgical intervention.ConclusionFurther attention should be paid for diagnosis and treatment of NC as it may be misdiagnosed as physiological jaundice; this may delay the proper management of the underlying diseases and aggravates its complications.

Highlights

  • neonatal cholestasis (NC) affects 1/2500 live births, resulting in life-threatening complications due to associated hepatobiliary or metabolic abnormalities

  • Neonatal physiological jaundice is a common benign condition that rarely extends behind the second week of life; it may delay the diagnosis of a

  • AR autosomal recessive, Gamma-glutamyl transpeptidase (GGT) gamma-glutamyl transferase, AFP alpha fetoprotein, ALT alanine aminotransferase, Bile salt export protein Multidrug resistance (BSEP) bile salt export pump, UDCA ursodeoxycholic acid, HCC hepatocellular carcinoma the absence of biliary obstruction, patients with hepatomegaly and NC with low GGT levels and normal or slightly elevated liver enzymes are characteristic of Arthrogryposis renal dysfunction cholestasis (ARC)

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Summary

Main text

NC affects 1/2500 live births, resulting in life-threatening complications due to associated hepatobiliary or metabolic abnormalities. NC is rarely benign and indicates the presence of severe underlying disease. A stepwise diagnostic approach starts with obtaining a complete history, and a physical examination which are valuable for the rapid diagnosis of the underlying disease. The most frequently diagnosed causes of NC are biliary atresia (BA) and idiopathic neonatal hepatitis (INH). The early diagnosis of NC ensures more accurate management and better prognosis. Despite the unavailability of any specific treatments for some causes of NC, the patient can benefit from nutritional management and early medical intervention. Future research should attempt to shed light on methods of screening for NC, especially for causes that can be effectively treated either through proper nutritional support, appropriate chemotherapeutic management, or timely surgical intervention

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