Volume 5, Issue 1, January 2019, Page: 1-4
Analysis of Clinical and Pathological Features of a Case of Primary Carnitine Deficiency
Yanqing Kong, Department of Pathology, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen, China
Xin Wei, Department of Pathology, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen, China
Xueyu Chen, Department of Neonatology, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen, China
Received: Nov. 24, 2018;       Accepted: Dec. 19, 2018;       Published: Jan. 21, 2019
DOI: 10.11648/j.ijcems.20190501.11      View  259      Downloads  41
Abstract
In recent years, with the application of tandem mass spectrometry, an increasing number of patients with primary carnitine deficiency have been diagnosed in China. Because it is mainly concentrated in cities with good conditions, there are few reports of this disease in China. At present, the existing reports have mainly focused on screening and there are no reports addressing the degree of lesions in patients with primary carnitine deficiency. This article reports an pathological diagnosis upon autopsy of a patient with primary carnitine deficiency and describes and describes the pathological features of primary carnitine deficiency. The clinical data of the patient with primary carnitine were retrieved. A histologic analysis was performed on the liver. The autopsy pathology showed diffuse lesions in the patient's liver, interstitial pneumonia, pulmonary hemorrhage, pulmonary emphysema, and hilar lymphadenitis. The clinical response was characterized by abnormal liver function, fatty stool, abnormal renal function presenting as hematuria, and clinical manifestations such as elevated creatine kinase in the heart. Therefore, this pathological examination provides morphological diagnostic data for patients with primary carnitine deficiency and for the diagnosis of the degree of disease in these patients.
Keywords
Primary Carnitine Deficiency, Autopsy, Liver Enlargement, Chromosomal Genetic Disease
To cite this article
Yanqing Kong, Xin Wei, Xueyu Chen, Analysis of Clinical and Pathological Features of a Case of Primary Carnitine Deficiency, International Journal of Clinical and Experimental Medical Sciences. Vol. 5, No. 1, 2019, pp. 1-4. doi: 10.11648/j.ijcems.20190501.11
Copyright
Copyright © 2019 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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