دورية أكاديمية
[Cystinosis: diagnosis through the measurement of the leukocyte cystine content by HPLC].
| العنوان: | [Cystinosis: diagnosis through the measurement of the leukocyte cystine content by HPLC]. |
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| عنوان ترانسليتريتد: | Cistinosis: diagnóstico mediante la determinación del contenido de cistina intraleucocitaria por cromatografía líquida de alta resolución. |
| المؤلفون: | Martínez Llamas MS; Servicio de Análisis Clínicos, Hospital Universitario Virgen de las Nieves, Granada, Spain., Cabrera Morales CM, Bravo Soto JA, Cantón J, Pedrinaci S |
| المصدر: | Medicina clinica [Med Clin (Barc)] 2004 Jun 19; Vol. 123 (3), pp. 97-9. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | Spanish; Castilian |
| بيانات الدورية: | Publisher: Elsevier España Country of Publication: Spain NLM ID: 0376377 Publication Model: Print Cited Medium: Print ISSN: 0025-7753 (Print) Linking ISSN: 00257753 NLM ISO Abbreviation: Med Clin (Barc) Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: <2009- > : Madrid : Elsevier España Original Publication: Barcelona : Ediciones Doyma, S.A. |
| مواضيع طبية MeSH: | Cystine/*blood , Cystinosis/*diagnosis , Leukocytes/*chemistry, Adult ; Amino Acid Transport Systems, Neutral ; Chromatography, High Pressure Liquid ; Female ; Genetic Carrier Screening ; Glycoproteins/genetics ; Humans ; Membrane Proteins/genetics ; Membrane Transport Proteins ; Pedigree |
| مستخلص: | Background and Objective: Cystinosis is an autosomal recessive disorder characterized by an accumulation of intralysosomal cystine. Three disease forms exist, infantile, juvenile or late-onset, and ocular nonnephropathic cystinosis, delineated on the basis of severity of symptoms and age of onset. The knowledge of early clinic manifestations and the onset of the appropriate therapy delay the evolution of the disease and improve the general conditions. Therefore, it is necessary to develop a sensible diagnostic method for early detection and treatment of the disease. CLINICAL CASE AND METHODS: The leukocyte cystine content was determined by HPLC in a 42 years old female patient after renal transplantation, and with the clinical characteristic complications of the intermediate cystinosis. Equally, the molecular characterization of the structural defects of the cystinosin (CTNS) gene was made in the patient and in all family members. Results: By measuring of the leukocyte cystine content in the patient and family members, we have determined 5 family members as heterozygous. This result was confirmed by molecular analysis that showed the approximately 65 kb deletion in the 5 family members. The patient was heterozygous for the approximately 65 kb deletion, and the second alteration was not determined. Conclusions: We presented a useful diagnostic method, based in the determination of cystine content of polymorphonuclear leukocytes, which permits to detect the heterozygous individuals. |
| التعليقات: | Comment in: Med Clin (Barc). 2004 Jun 19;123(3):95-6. (PMID: 15225474) |
| المشرفين على المادة: | 0 (Amino Acid Transport Systems, Neutral) 0 (CTNS protein, human) 0 (Glycoproteins) 0 (Membrane Proteins) 0 (Membrane Transport Proteins) 48TCX9A1VT (Cystine) |
| تواريخ الأحداث: | Date Created: 20040701 Date Completed: 20040831 Latest Revision: 20190823 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1157/13063485 |
| PMID: | 15225475 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 0025-7753 |
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| DOI: | 10.1157/13063485 |