[ Apport de l’électrophorèse des protéines sériques dans le diagnostic de la maladie de Gaucher: Etude de 8 cas diagnostiqués à l’Hôpital d’enfant Abderrahim Elharouchi, CHU Ibn Rochd Casablanca ]
Volume 35, Issue 4, March 2022, Pages 534–540
Asmaa Morjan1, I. Chahid2, S. Ferchichi3, Kamal Nbiha4, and A. Abkari5
1 Laboratoire de biochimie, CHU Ibn Rochd, Casablanca, Morocco
2 Laboratoire d’Immunologie Clinique et d’Immuno-Allergie (LICIA), Faculté de Médecine et de Pharmacie, Université Hassan II, Casablanca, Morocco
3 Laboratoire biochimie hôpital Farhat Hached, Tunisia
4 Laboratoire de biochimie, CHU Ibn Rochd de Casablanca, Morocco
5 Laboratoire d’Immunologie Clinique et d’Immuno-Allergie (LICIA), Faculté de Médecine et de Pharmacie, Université Hassan II, Casablanca, Morocco
Original language: French
Copyright © 2022 ISSR Journals. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Gaucher disease is an autosomal recessive genetic metabolic disorder due to an inherited disorder of metabolism, resulting from glucocerebrosidase deficiency, resulting in the deposition of glucocerebroside and its components. The clinical symptoms are different depending on the type of the disease, but it is usually hepatosplenomegaly or damage to the central nervous system.Laboratory diagnosis can use routine analyzes such as ferritin, HDL, vitamin b12, folate, serum iron, but also specialized ones such as serum protein electrophoresis as well as immunofixation for the typing of immunoglobulins.Through this work, we will shed light on the interest of serum protein electrophoresis in the biological orientation of the biology diagnosis of Gaucher disease, and this through case illustrations.Confirmatory laboratory diagnosis is based on DNA analysis and / or enzymatic analysis of white blood cells, and by demonstrating a decrease in β-glucosidase activity...
Author Keywords: Left-handed, electrophoresis, hepatomegaly, splenomegaly, enzymatic activity.
Volume 35, Issue 4, March 2022, Pages 534–540
Asmaa Morjan1, I. Chahid2, S. Ferchichi3, Kamal Nbiha4, and A. Abkari5
1 Laboratoire de biochimie, CHU Ibn Rochd, Casablanca, Morocco
2 Laboratoire d’Immunologie Clinique et d’Immuno-Allergie (LICIA), Faculté de Médecine et de Pharmacie, Université Hassan II, Casablanca, Morocco
3 Laboratoire biochimie hôpital Farhat Hached, Tunisia
4 Laboratoire de biochimie, CHU Ibn Rochd de Casablanca, Morocco
5 Laboratoire d’Immunologie Clinique et d’Immuno-Allergie (LICIA), Faculté de Médecine et de Pharmacie, Université Hassan II, Casablanca, Morocco
Original language: French
Copyright © 2022 ISSR Journals. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Gaucher disease is an autosomal recessive genetic metabolic disorder due to an inherited disorder of metabolism, resulting from glucocerebrosidase deficiency, resulting in the deposition of glucocerebroside and its components. The clinical symptoms are different depending on the type of the disease, but it is usually hepatosplenomegaly or damage to the central nervous system.Laboratory diagnosis can use routine analyzes such as ferritin, HDL, vitamin b12, folate, serum iron, but also specialized ones such as serum protein electrophoresis as well as immunofixation for the typing of immunoglobulins.Through this work, we will shed light on the interest of serum protein electrophoresis in the biological orientation of the biology diagnosis of Gaucher disease, and this through case illustrations.Confirmatory laboratory diagnosis is based on DNA analysis and / or enzymatic analysis of white blood cells, and by demonstrating a decrease in β-glucosidase activity...
Author Keywords: Left-handed, electrophoresis, hepatomegaly, splenomegaly, enzymatic activity.
Abstract: (french)
La maladie de Gaucher est une affection métabolique génétique à transmission autosomique récessivedue à un trouble héréditaire du métabolisme, résultant d'un déficit en glucocérébrosidase, entraînant le dépôt de glucocérébroside et de ses composants. La symptomatologie clinique est différente selon le type de la maladie mais il s'agit généralement d'une hépatosplénomégalie ou d'une atteinte du système nerveux central.Le diagnostic biologique peut avoir recours à des analyses de routines telles de la Ferritine, HDL, vitamine b12, folates, le fer sérique mais aussi spécialisées telle l’électrophorèse des protéines sériques ainsi que l’immunofixation pour le typage des immunoglobulines.A travers le présent travail, nous mettrons la lumière sur l’intérêt de l’électrophorèse des protéines sériques dans l’orientation biologique du diagnostic biologie de la maladie de Gaucher, et ceci par des illustrations de cas.Le diagnostic biologique de confirmation repose sur l’analyse de l'ADN et/ou l’analyse enzymatique des globules blancs, et par la mise en évidence de la diminution de l’activité de la β-glucosidase….
Author Keywords: Gaucher, électrophorèse, hépatomégalie, splénomégalie, activité enzymatique.
How to Cite this Article
Asmaa Morjan, I. Chahid, S. Ferchichi, Kamal Nbiha, and A. Abkari, “Contribution of serum protein electrophoresis in the diagnosis of Gaucher disease: Study of 8 cases diagnosed at Abderrahim Elharouchi Children's Hospital, CHU Ibn Rochd Casablanca,” International Journal of Innovation and Applied Studies, vol. 35, no. 4, pp. 534–540, March 2022.
