Citrullinemia in a newborn: a case report

Golosnaya, G. S.; Belousova, Tatiana; Novikov, M. Yu.; Knyazeva, N. Yu.; Podkopaev, D. Yu.; Trifonova, E. G.; Makulova, A.I.; Ginen, Ya. Ya.; Kozheurova, Z. A.; Kholichev, D. A.; Politov, D. A.; Baranova, Polina V.; Ермоленко, Н. А.; Krasnorutskaya, Olga; Kaledina, E. Ya.; Ogurtsov, A.V.; Seleznev, K. A.

doi:10.17650/2073-8803-2022-17-3-72-78

Rus. ž. det. nevrol.

2022

DOI: 10.17650/2073-8803-2022-17-3-72-78

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Citrullinemia in a newborn: a case report

G. S. Golosnaya

Tatiana Belousova²,

M. Yu. Novikov³

et al.

Abstract: Inherited metabolic disorders have a specific place among cases of sudden deterioration of the newborn’s condition. Therapies have been developed for some of these disorders. Accurate verification of the diagnosis is extremely important for choosing an optimal treatment strategy. However, treatment is not always successful due to the rapid progression of symptoms. We report a case of citrullinemia diagnosed in a newborn in Vidnoye Perinatal Center.

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2024

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Differential Diagnosis of Conjugated Hyperbilirubinemia in Infancy (Literature Review)

Gudkov,

Dmitriyev,

Fedina

et al. 2024

I.P. Pavlov Russian Medical Biological Herald

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INTRODUCTION: Conjugated hyperbilirubinemia in newborns may evidence prognostically dangerous diseases. However, the variety of causes and rarity of some of them makes differential diagnosis challenging. AIM: To determine the order of diagnostic actions to exclude, first of all, the most probable causes of conjugated hyperbilirubinemia. The review presents relevant information on diseases of newborns and children, running with elevation of the serum level of conjugated bilirubin. The search was carried out in PubMed, MEDLINE, eLibrary.ru databases for 2016–2023. The issues of terminology, etiology and risk factors are briefly covered. The presented pathologies include biliary atresia and Alagille syndrome, infectious and iatrogenic hepatopathies, various forms (including the new ones) of progressive familial intrahepatic cholestasis, disorders in synthesis of the primary bile acids, α1-antitrypsin deficiency, galactosemia, tyrosinemia type 1, cystic malformations, mitochondrial diseases and some other rare diseases accompanied by conjugated hyperbilirubinemia. Brief diagnostic characteristics of the presented diseases are given. CONCLUSION: The differential diagnosis of conjugated hyperbilirubinemia in newborns and children is a complex problem requiring immediate solution by successive exclusion of the most probable diseases, first of all, biliary atresia, Alagille syndrome, infectious and iatrogenic causes.

show abstract

Differential Diagnosis of Conjugated Hyperbilirubinemia in Infancy (Literature Review)

Gudkov,

Dmitriyev,

Fedina

et al. 2024

I.P. Pavlov Russian Medical Biological Herald

View full text Add to dashboard Cite

show abstract

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Citrullinemia in a newborn: a case report

Cited by 1 publication

References 14 publications

Differential Diagnosis of Conjugated Hyperbilirubinemia in Infancy (Literature Review)

Differential Diagnosis of Conjugated Hyperbilirubinemia in Infancy (Literature Review)

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