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.
| Published in | Clinical Medicine Research (Volume 10, Issue 1) |
| DOI | 10.11648/j.cmr.20211001.16 |
| Page(s) | 31-34 |
| Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
| Copyright |
Copyright © The Author(s), 2021. Published by Science Publishing Group |
Citrin Deficiency, SLC25A13, Nursing, Infant, Case Report
| [1] | Saheki, T., & Song, Y. Z. (2005). Citrin Deficiency. In M. P. Adam (Eds.) et. al., GeneReviews®. University of Washington, Seattle. |
| [2] | Saheki, T., Nakano, K., Kobayashi, K., Imamura, Y., Itakura, Y., Sase, M., Hagihara, S., & Matuo, S. (1985). Analysis of the enzyme abnormality in eight cases of neonatal and infantile citrullinaemia in Japan. Journal of inherited metabolic disease, 8 (3), 155-156. |
| [3] | Kikuchi, A., Arai-Ichinoi, N., Sakamoto, O., Matsubara, Y., Saheki, T., Kobayashi, K., Ohura, T., & Kure, S. (2012). Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13. Molecular genetics and metabolism, 105 (4), 553-558. |
| [4] | Dimmock, D., Maranda, B., Dionisi-Vici, C., Wang, J., Kleppe, S., Fiermonte, G., Bai, R., Hainline, B., Hamosh, A., O'Brien, W. E., Scaglia, F., & Wong, L. J. (2009). Citrin deficiency, a perplexing global disorder. Molecular genetics and metabolism, 96 (1), 44-49. |
| [5] | National Health Commission of the People’s Republic of China. Notice of the General Office of the National Health Commission on the Issuance of Guidelines for the Diagnosis and Treatment of Rare Diseases (2019 edition). [EB/OL]. [2019-02-27]. http://www.nhc.gov.cn/yzygj/s7659/201902/61d06b4916c348e0810ce1fceb844333.shtml |
| [6] | Saheki, T., Inoue, K., Tushima, A., Mutoh, K., & Kobayashi, K. (2010). Citrin deficiency and current treatment concepts. Molecular genetics and metabolism, 100 Suppl 1, S59-S64. |
| [7] | Raphael B. P. (2015). Nutritional management in cholestatic liver disease. World review of nutrition and dietetics, 113, 178-181. |
| [8] | Young, S., Kwarta, E., Azzam, R., & Sentongo, T. (2013). Nutrition assessment and support in children with end-stage liver disease. Nutrition in clinical practice: official publication of the American Society for Parenteral and Enteral Nutrition, 28 (3), 317-329. |
| [9] | Xueyuan Gu. Clinical Geneticmetabolic Diseases. Beijing: People's Medical Publishing House. 2015: 84-89. |
| [10] | Hayasaka, K., Numakura, C., Toyota, K., & Kimura, T. (2012). Treatment with lactose (galactose)-restricted and medium-chain triglyceride-supplemented formula for neonatal intrahepatic cholestasis caused by citrin deficiency. JIMD reports, 2, 37-44. |
| [11] | Sha Cai. Analysis of clinical characteristics of 709 cases with Neonatal Intrahepatic cholestasis caused by Citrin deficiency [dissertation]. Guanzhou: Nanchang University, 2019. (in Chinese). |
| [12] | Yu, J., Liu, C., Xiao, Y., Xiang, Z., Zhou, H., Chen, L., Shen, K., Xie, Z., Ren, L., & Wang, J. (2019). Respiratory Syncytial Virus Seasonality, Beijing, China, 2007-2015. Emerging infectious diseases, 25 (6), 1127-1135. |
| [13] | Toivonen, L., Karppinen, S., Schuez-Havupalo, L., Teros-Jaakkola, T., Mertsola, J., Waris, M., & Peltola, V. (2020). Respiratory syncytial virus infections in children 0-24 months of age in the community. The Journal of infection, 80 (1), 69-75. |
| [14] | Borchers, A. T., Chang, C., Gershwin, M. E., & Gershwin, L. J. (2013). Respiratory syncytial virus--a comprehensive review. Clinical reviews in allergy & immunology, 45 (3), 331-379. |
| [15] | Abuduxikuer, K., Chen, R., Wang, Z. L., & Wang, J. S. (2019). Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications. BMC pediatrics, 19 (1), 18. |
| [16] | Zhang, M. H., Gong, J. Y., & Wang, J. S. (2015). Citrin deficiency presenting as acute liver failure in an eight-month-old infant. World journal of gastroenterology, 21 (23), 7331-7334. |
| [17] | Chew, H. B., Ngu, L. H., Zabedah, M. Y., Keng, W. T., Balasubramaniam, S., Hanifah, M. J., & Kobayashi, K. (2010). Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients. Journal of inherited metabolic disease, 33 Suppl 3, S489-S495. |
| [18] | Pelentsov, L. J., Laws, T. A., & Esterman, A. J. (2015). The supportive care needs of parents caring for a child with a rare disease: A scoping review. Disability and health journal, 8 (4), 475-491. |
| [19] | Pelentsov, L. J., Fielder, A. L., & Esterman, A. J. (2016). The Supportive Care Needs of Parents With a Child With a Rare Disease: A Qualitative Descriptive Study. Journal of pediatric nursing, 31 (3), e207-e218. |
| [20] | McConkie-Rosell, A., Hooper, S. R., Pena, L., Schoch, K., Spillmann, R. C., Jiang, Y. H., Cope, H., Undiagnosed Diseases Network, Palmer, C., & Shashi, V. (2018). Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?. Journal of genetic counseling, 27 (4), 935-946. |
APA Style
Lingli Cai, Yuanzong Song, Ning Zhang, Meixue Chen, Weiju Chen, et al. (2021). Nursing of an Infant Diagnosed with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) with Respiratory Syncytial Virus (RSV) Infection: A Case Report. Clinical Medicine Research, 10(1), 31-34. https://doi.org/10.11648/j.cmr.20211001.16
ACS Style
Lingli Cai; Yuanzong Song; Ning Zhang; Meixue Chen; Weiju Chen, et al. Nursing of an Infant Diagnosed with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) with Respiratory Syncytial Virus (RSV) Infection: A Case Report. Clin. Med. Res. 2021, 10(1), 31-34. doi: 10.11648/j.cmr.20211001.16
AMA Style
Lingli Cai, Yuanzong Song, Ning Zhang, Meixue Chen, Weiju Chen, et al. Nursing of an Infant Diagnosed with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) with Respiratory Syncytial Virus (RSV) Infection: A Case Report. Clin Med Res. 2021;10(1):31-34. doi: 10.11648/j.cmr.20211001.16
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Download@article{10.11648/j.cmr.20211001.16,
author = {Lingli Cai and Yuanzong Song and Ning Zhang and Meixue Chen and Weiju Chen and Qingran Lin},
title = {Nursing of an Infant Diagnosed with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) with Respiratory Syncytial Virus (RSV) Infection: A Case Report},
journal = {Clinical Medicine Research},
volume = {10},
number = {1},
pages = {31-34},
doi = {10.11648/j.cmr.20211001.16},
url = {https://doi.org/10.11648/j.cmr.20211001.16},
eprint = {https://article.sciencepublishinggroup.com/pdf/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.},
year = {2021}
}
TY - JOUR T1 - Nursing of an Infant Diagnosed with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) with Respiratory Syncytial Virus (RSV) Infection: A Case Report AU - Lingli Cai AU - Yuanzong Song AU - Ning Zhang AU - Meixue Chen AU - Weiju Chen AU - Qingran Lin Y1 - 2021/02/26 PY - 2021 N1 - https://doi.org/10.11648/j.cmr.20211001.16 DO - 10.11648/j.cmr.20211001.16 T2 - Clinical Medicine Research JF - Clinical Medicine Research JO - Clinical Medicine Research SP - 31 EP - 34 PB - Science Publishing Group SN - 2326-9057 UR - https://doi.org/10.11648/j.cmr.20211001.16 AB - 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. VL - 10 IS - 1 ER -
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