Nursing of an Infant Diagnosed with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) with Respiratory Syncytial Virus (RSV) Infection: A Case Report

Lingli Cai,Qingran Lin,Meixue Chen,Yuanzong Song,Ning Zhang,Weiju Chen

doi:10.11648/j.cmr.20211001.16

Abstract

Background: Citrin deficiency is an autosomal recessive genetic disorder caused by SLC25A13 genetic mutations. Understandably, Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) was one of its clinical phenotypes, usually occurred in the neonatal period or infancy. The effective treatment of dietary intervention and symptomatic support may provide an avenue for clinicians to reduce liver damage and improve clinical prognosis. Objective: We report a 5-month-old infant diagnosed with Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD), coexisting Respiratory Syncytial Virus (RSV) infection. Method: The patient presented with rhinorrhea and cough, jaundiced skin and sclera, fat faces and hepatomegaly. Simultaneously, the child’s mother performed obvious anxious emotion. Infection control, nutrition management, and psychological guidance for the caregiver during hospitalization to discharge were achieved. Meanwhile, effective health education also plays a good role in these interventions. Result: After half a month, the patient’s infection was given controlled. Jaundice and hepatomegaly were improved gradually. Followeing up for 2 months, the clinical symptoms for NICCD were disappeared and the caregiver’s anxiety was alleviated effectively. The importance of follow-up and support longitudinally to improve the quality of life for patients is emphasized. Conclusion: Therefore, this study provided primary while valuable nursing care experience for NICCD with RSV infection patients.

Highlights

Citrin Deficiency (CD) is an autosomal recessive disease caused by SLC25A13 genetic mutations which causes three age-dependent clinical phenotypes, namely, neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in infants, failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) in older children, and adult-onset type II citrullinemia (CTLN2) in adults [1]
The clinical manifestation and laboratory inspection of Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) are complex, they usually present with cholestatic jaundice, decreased alanine aminotransferase (ALT) to aspartate acid transaminase (AST) ratio, hypoglycemia, high levels of alpha-fetoprotein (AFP), and fatty liver, comfortingly, with symptoms usually self-resolving by the first years [1, 6]
We summarize the nursing experience and introduce a guideline for the effective management of NICCD with Respiratory Syncytial Virus (RSV) infection patients

Summary

Introduction

Citrin Deficiency (CD) is an autosomal recessive disease caused by SLC25A13 genetic mutations which causes three age-dependent clinical phenotypes, namely, neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in infants, failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) in older children, and adult-onset type II citrullinemia (CTLN2) in adults [1]. The clinical manifestation and laboratory inspection of NICCD are complex, they usually present with cholestatic jaundice, decreased alanine aminotransferase (ALT) to aspartate acid transaminase (AST) ratio, hypoglycemia, high levels of alpha-fetoprotein (AFP), and fatty liver, comfortingly, with symptoms usually self-resolving by the first years [1, 6]. In this case report, we summarize the nursing experience and introduce a guideline for the effective management of NICCD with RSV infection patients. Conclusion: this study provided primary while valuable nursing care experience for NICCD with RSV infection patients

Objectives

Discussion

Conclusion