Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2021; 20: 140-144
Применение высокоэффективной жидкостной хроматографии в диагностике порфирий
https://doi.org/10.24287/1726-1708-2021-20-3-140-144Аннотация
Порфирии различаются по этапу синтеза гема, на котором происходит сбой, приводящий к накоплению промежуточных продуктов – порфиринов. Ввиду низкой специфичности клинических проявлений порфирий и латентного течения заболеваний их своевременная диагностика затруднена. В статье дается обоснование применения высокоэффективной жидкостной хроматографии в определении порфиринов. Метод пригоден к выявлению порфиринов в моче, крови и кале пациентов. Продемонстрированы примеры его работы.
Список литературы
1. Fratz E.J., Stojanovski B.M., Ferreira G.C. Toward Heme: 5-Aminolevulinate Synthase and Initiation of Porphyrin Synthesis. Handbook of Porphyrin Science, Heme Biochemistry, Vol 26. World Scientific Publishing Co. Pte. Ltd., Place Published; 2014, Рp. 3–68.
2. Биохимия: учебник для вузов. Под ред. Северина Е.С. 5-е изд. М.; 2009. 768 с.
3. Bissell D.M., Wang B. Acute Hepatic Porphyria. J Clin Transl Hepatol 2015; 3 (1): 17–26.
4. Pischik E., Kauppinen R. Neurological manifestations of acute intermittent porphyria. Cellular and Molecular Biology (Noisy-Le-Grand, France), 2009; 55: 72– 83
5. Phillips J.D. Heme biosynthesis and the porphyrias. Mol Genet Metab 2019; 128 (3): 164–77.
6. Owusu S.K., Asamoah E.O., OforiDarko V.A. Acute intermittent porphyria. An often forgotten diagnosis in acute abdomen. West Afr J Med 1992; 11: 162–4.
7. Greer J.P., Foerster J., Lukens J.N., Rodgers G.M., Paraskevas F., Glader B. In: Wintrobe’s clinical Hematology. 12th ed. Sylvia S., ed. Bottemley Porphyria; 2004. Pp. 1058–62.
8. Doss M.O., Stauch T., Gross U., Renz M., Akagi R., Doss-Frank M., et al. The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany. J Inherit Metab Dis 2004; 27 (4): 529–36.
9. Elder G., Harper P., Badminton M., Sandberg S., Deybach J.C. The incidence of inherited porphyrias in Europe. J Inherit Metab Dis 2013; 36 (5): 849–57.
10. Balwani M., Singh P., Seth A., Debnath E.M., Naik H., Doheny D., et al. Acute Intermittent Porphyria in children: A case report and review of the literature. Mol Genet Metab 2016; 119: 295–9.
11. Pischik E., Kauppinen R. An update of clinical management of acute intermittent porphyria. Appl Clin Genet 2015; 8: 201–14.
12. Stein P.E., Badminton M.N., Rees D.C. Update review of the acute porphyrias. Br J Haematol 2017; 176 (4): 527–38.
13. Kakoullis L., Louppides S., Papachristodoulou E., Panos G. Porphyrias and photosensitivity: pathophysiology for the clinician. Postgrad Med 2018; 130: 673–86.
14. Anderson K.E., Lee C., Desnick R.J. Nelson Text Book of Pediatrics. 18th ed. Vol. 1. Philadelphia: Kliegman, Behrman, Jenson, Stanton, Saunders Elsevier; 2007. Pp. 645–7.
15. Woolf J., Marsden J.T., Degg T., Whatley S., Reed P., Brazil N., et al. Best practice guidelines on first-line laboratory testing for porphyria. Ann Clin Biochem 2017; 54 (2): 188–98.
16. Sykes R.M. Acute intermittent porphyria, seizures, and antiepileptic drugs: a report on a 3-year-old Nigerian boy. Seizure 2001; 10: 64–6.
17. Bhavasar R., Santoshkumar G., Prakash B.R. Erythrodontia in congenital erythropoietic porphyria. J Oral Maxillofac Pathol 2011; 15 (1): 69–73.
18. Puy H., Gouya L., Deybach J.C. Porphyrias. Lancet 2010; 375: 924–37.
19. Macours P. Improvement in HPLC separation of porphyrin isomers and application to biochemical diagnosis of porphyrias. Clin Chem Lab Med 2006; 44 (12): 1433–40.
20. Hindmarsh J.T. Enzyme assays and the porphyrias: which tissues and when indicated. Clin Dermatol 1998; 16: 245–50.
21. Mauzerall D., Granick S. The occurrence and determination of aminolevulinic acid and porphobilinogen in urine. J Biol Chem 1956; 219: 435–46.
22. Tietz N.W., Burtis C.A., Ashwood E.R. Textbook of Clinical Chemistry and Molecular Diagnostics, 4th ed. Sanders Co; 2005.
23. Richard A. McPherson Henry's Clinical Diagnosis and Management by Laboratory Methods: First South Asia Edition e-Book. Elsevier Health Sciences; 2017. P. 459.
24. Hindmarsh J.T., Oliveras L. Biochemical Differentiation of the Porphyrias Clin Biochem 1999; 32 (8): 609–19.
25. Бёккер Ю. Хроматография. Инструментальная аналитика: методы хроматографии и капиллярного электрофореза. Техносфера; 2009. С. 472.
26. Johnson P.M., Perkins S.L., Kennedy S.W. A high speed liquid-chromatographic method for measuring urine porphyrins. Clin Chem 1988; 34: 103–5.
27. Бриттон Г. Биохимия природных пигментов. Пер. с англ. – М.: Мир; 1986. С. 109.
28. Patel M., Day D.J. Metalloporphyrin class of therapeutic catalytic antioxidants. Trends Pharmacol Sci 1999; 20 (9): 359–64.
Pediatric Hematology/Oncology and Immunopathology. 2021; 20: 140-144
Application of high-performance liquid chromatography in porphyrias diagnostics
https://doi.org/10.24287/1726-1708-2021-20-3-140-144Abstract
Porphyrias are distinguished by the stage of heme synthesis at which a failure occurs, leading to the accumulation of intermediate products – porphyrins. Due to the low specificity of clinical manifestations of porphyria and the latent course of the disease, their timely diagnosis is difficult. This article substantiates the effectiveness of high-performance liquid chromatography method in the determination of porphyrins. The method is suitable for porphyrin determination in urine, blood and feces of patients. Examples of its work are shown.
References
1. Fratz E.J., Stojanovski B.M., Ferreira G.C. Toward Heme: 5-Aminolevulinate Synthase and Initiation of Porphyrin Synthesis. Handbook of Porphyrin Science, Heme Biochemistry, Vol 26. World Scientific Publishing Co. Pte. Ltd., Place Published; 2014, Rp. 3–68.
2. Biokhimiya: uchebnik dlya vuzov. Pod red. Severina E.S. 5-e izd. M.; 2009. 768 s.
3. Bissell D.M., Wang B. Acute Hepatic Porphyria. J Clin Transl Hepatol 2015; 3 (1): 17–26.
4. Pischik E., Kauppinen R. Neurological manifestations of acute intermittent porphyria. Cellular and Molecular Biology (Noisy-Le-Grand, France), 2009; 55: 72– 83
5. Phillips J.D. Heme biosynthesis and the porphyrias. Mol Genet Metab 2019; 128 (3): 164–77.
6. Owusu S.K., Asamoah E.O., OforiDarko V.A. Acute intermittent porphyria. An often forgotten diagnosis in acute abdomen. West Afr J Med 1992; 11: 162–4.
7. Greer J.P., Foerster J., Lukens J.N., Rodgers G.M., Paraskevas F., Glader B. In: Wintrobe’s clinical Hematology. 12th ed. Sylvia S., ed. Bottemley Porphyria; 2004. Pp. 1058–62.
8. Doss M.O., Stauch T., Gross U., Renz M., Akagi R., Doss-Frank M., et al. The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany. J Inherit Metab Dis 2004; 27 (4): 529–36.
9. Elder G., Harper P., Badminton M., Sandberg S., Deybach J.C. The incidence of inherited porphyrias in Europe. J Inherit Metab Dis 2013; 36 (5): 849–57.
10. Balwani M., Singh P., Seth A., Debnath E.M., Naik H., Doheny D., et al. Acute Intermittent Porphyria in children: A case report and review of the literature. Mol Genet Metab 2016; 119: 295–9.
11. Pischik E., Kauppinen R. An update of clinical management of acute intermittent porphyria. Appl Clin Genet 2015; 8: 201–14.
12. Stein P.E., Badminton M.N., Rees D.C. Update review of the acute porphyrias. Br J Haematol 2017; 176 (4): 527–38.
13. Kakoullis L., Louppides S., Papachristodoulou E., Panos G. Porphyrias and photosensitivity: pathophysiology for the clinician. Postgrad Med 2018; 130: 673–86.
14. Anderson K.E., Lee C., Desnick R.J. Nelson Text Book of Pediatrics. 18th ed. Vol. 1. Philadelphia: Kliegman, Behrman, Jenson, Stanton, Saunders Elsevier; 2007. Pp. 645–7.
15. Woolf J., Marsden J.T., Degg T., Whatley S., Reed P., Brazil N., et al. Best practice guidelines on first-line laboratory testing for porphyria. Ann Clin Biochem 2017; 54 (2): 188–98.
16. Sykes R.M. Acute intermittent porphyria, seizures, and antiepileptic drugs: a report on a 3-year-old Nigerian boy. Seizure 2001; 10: 64–6.
17. Bhavasar R., Santoshkumar G., Prakash B.R. Erythrodontia in congenital erythropoietic porphyria. J Oral Maxillofac Pathol 2011; 15 (1): 69–73.
18. Puy H., Gouya L., Deybach J.C. Porphyrias. Lancet 2010; 375: 924–37.
19. Macours P. Improvement in HPLC separation of porphyrin isomers and application to biochemical diagnosis of porphyrias. Clin Chem Lab Med 2006; 44 (12): 1433–40.
20. Hindmarsh J.T. Enzyme assays and the porphyrias: which tissues and when indicated. Clin Dermatol 1998; 16: 245–50.
21. Mauzerall D., Granick S. The occurrence and determination of aminolevulinic acid and porphobilinogen in urine. J Biol Chem 1956; 219: 435–46.
22. Tietz N.W., Burtis C.A., Ashwood E.R. Textbook of Clinical Chemistry and Molecular Diagnostics, 4th ed. Sanders Co; 2005.
23. Richard A. McPherson Henry's Clinical Diagnosis and Management by Laboratory Methods: First South Asia Edition e-Book. Elsevier Health Sciences; 2017. P. 459.
24. Hindmarsh J.T., Oliveras L. Biochemical Differentiation of the Porphyrias Clin Biochem 1999; 32 (8): 609–19.
25. Bekker Yu. Khromatografiya. Instrumental'naya analitika: metody khromatografii i kapillyarnogo elektroforeza. Tekhnosfera; 2009. S. 472.
26. Johnson P.M., Perkins S.L., Kennedy S.W. A high speed liquid-chromatographic method for measuring urine porphyrins. Clin Chem 1988; 34: 103–5.
27. Britton G. Biokhimiya prirodnykh pigmentov. Per. s angl. – M.: Mir; 1986. S. 109.
28. Patel M., Day D.J. Metalloporphyrin class of therapeutic catalytic antioxidants. Trends Pharmacol Sci 1999; 20 (9): 359–64.
