Deficiency of Lysosomic Acid Lipase: Clinical Recommendations for Child Health Care Delivery
The deficiency of lysosomic acid lipase is a rare hereditary enzymopathy. The focus of this article is the present condition of this issue. The authors demonstrate epidemiological data and etiopathogenetic features of two phenotypic forms of lysosomic acid lipase deficiency — Wolman disease and chol...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Union of pediatricians of Russia
2016-08-01
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| Series: | Педиатрическая фармакология |
| Subjects: | |
| Online Access: | https://www.pedpharma.ru/jour/article/view/1422 |
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| author | A. A. Baranov L. S. Namazova-Baranova O. S. Gundobina S. V. Mikhailova E. U. Zakharova E. A. Vishnyova K. V. Savostianov M. U. Stepanyan |
| author_facet | A. A. Baranov L. S. Namazova-Baranova O. S. Gundobina S. V. Mikhailova E. U. Zakharova E. A. Vishnyova K. V. Savostianov M. U. Stepanyan |
| author_sort | A. A. Baranov |
| collection | DOAJ |
| description | The deficiency of lysosomic acid lipase is a rare hereditary enzymopathy. The focus of this article is the present condition of this issue. The authors demonstrate epidemiological data and etiopathogenetic features of two phenotypic forms of lysosomic acid lipase deficiency — Wolman disease and cholesterol ester storage disease. Clinical features of both — the rapidly progressing form and the slowly developing cholesterol ester storage disease — are described in detail in this article. The algorithm and crucial steps of differential diagnosis are described in detail. Also, indications to pathogenetic therapy are carefully formulated, and the tactic of enzyme replacing therapy is given. The modern approaches to the management of child patients are described. |
| format | Article |
| id | doaj-art-3f4a9f9b0ebc4ec1b56d4cdd4e189f05 |
| institution | DOAJ |
| issn | 1727-5776 2500-3089 |
| language | Russian |
| publishDate | 2016-08-01 |
| publisher | Union of pediatricians of Russia |
| record_format | Article |
| series | Педиатрическая фармакология |
| spelling | doaj-art-3f4a9f9b0ebc4ec1b56d4cdd4e189f052025-08-20T03:19:41ZrusUnion of pediatricians of RussiaПедиатрическая фармакология1727-57762500-30892016-08-0113323924310.15690/pf.v13i3.15731407Deficiency of Lysosomic Acid Lipase: Clinical Recommendations for Child Health Care DeliveryA. A. Baranov0L. S. Namazova-Baranova1O. S. Gundobina2S. V. Mikhailova3E. U. Zakharova4E. A. Vishnyova5K. V. Savostianov6M. U. Stepanyan7Scientific Center of Children’s Health, Moscow, Russian Federation Sechenov First Moscow State Medical University, Moscow, Russian FederationScientific Center of Children’s Health, Moscow, Russian Federation Sechenov First Moscow State Medical University, Moscow, Russian Federation Pirogov Russian National Research Medical University, Moscow, Russian FederationScientific Center of Children’s Health, Moscow, Russian FederationMedico-Genetic Scientific Center, Moscow, Russian FederationMedico-Genetic Scientific Center, Moscow, Russian FederationScientific Center of Children’s Health, Moscow, Russian FederationScientific Center of Children’s Health, Moscow, Russian FederationScientific Center of Children’s Health, Moscow, Russian FederationThe deficiency of lysosomic acid lipase is a rare hereditary enzymopathy. The focus of this article is the present condition of this issue. The authors demonstrate epidemiological data and etiopathogenetic features of two phenotypic forms of lysosomic acid lipase deficiency — Wolman disease and cholesterol ester storage disease. Clinical features of both — the rapidly progressing form and the slowly developing cholesterol ester storage disease — are described in detail in this article. The algorithm and crucial steps of differential diagnosis are described in detail. Also, indications to pathogenetic therapy are carefully formulated, and the tactic of enzyme replacing therapy is given. The modern approaches to the management of child patients are described.https://www.pedpharma.ru/jour/article/view/1422lysosomic acid lipase deficiencywolman diseasecholesterol ester storage diseasediagnosingdifferential diagnosisclinical coursetreatmentenzyme replacing therapychildren. |
| spellingShingle | A. A. Baranov L. S. Namazova-Baranova O. S. Gundobina S. V. Mikhailova E. U. Zakharova E. A. Vishnyova K. V. Savostianov M. U. Stepanyan Deficiency of Lysosomic Acid Lipase: Clinical Recommendations for Child Health Care Delivery Педиатрическая фармакология lysosomic acid lipase deficiency wolman disease cholesterol ester storage disease diagnosing differential diagnosis clinical course treatment enzyme replacing therapy children. |
| title | Deficiency of Lysosomic Acid Lipase: Clinical Recommendations for Child Health Care Delivery |
| title_full | Deficiency of Lysosomic Acid Lipase: Clinical Recommendations for Child Health Care Delivery |
| title_fullStr | Deficiency of Lysosomic Acid Lipase: Clinical Recommendations for Child Health Care Delivery |
| title_full_unstemmed | Deficiency of Lysosomic Acid Lipase: Clinical Recommendations for Child Health Care Delivery |
| title_short | Deficiency of Lysosomic Acid Lipase: Clinical Recommendations for Child Health Care Delivery |
| title_sort | deficiency of lysosomic acid lipase clinical recommendations for child health care delivery |
| topic | lysosomic acid lipase deficiency wolman disease cholesterol ester storage disease diagnosing differential diagnosis clinical course treatment enzyme replacing therapy children. |
| url | https://www.pedpharma.ru/jour/article/view/1422 |
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