НАСЛЕДСТВЕННЫЕ ФОРМЫ НЕЙРОИХТИОЗА: ОТ СИНДРОМАЛЬНОГО ПОДХОДА К ВЕРИФИКАЦИИ ДИАГНОЗА
Аннотация
Резюме. В статья изложены современные литературные данные об основных клинических синдромах и диагностических критериях нейроихтиоза — гетерогенной группе наследственных заболеваний, проявляющихся ихтиозом различной степени выраженности в сочетании с поражением нервной системы. Сделан упор на клинических особенностях отдельных нозологических форм нейроихтиоза.
Представлен диагностический паттерн для обследования пациента с предположительным нейроихтиозом. Приведено собственное клиническое наблюдение, демонстрирующее важность клинического осмотра и анализа анамнестических данных в верификации нозологической формы нейроихтиоза.
Литература
1. Евтушенко И.С. Дермато-нефро-цереброкардиальные проявления болезни Фабри / И.С. Евтушенко // Український медичний часопис. – 2013. – № 96 (4). – С. 95-96
2. Евтушенко С.К. Этиология и патогенез церебрального паралича у детей (новый взгляд на старую проблему) (лекция) / С.К. Евтушенко // Международный неврологический журнал. –2014. – № 65 (3). – С. 117-123
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4. Adams S.M. Sudden infant death syndrome / S.M. Adams, M.W. Good, G.M. Defranco // American Family Physician. – 2009. – Vol. 79. – № 10. – P. 870-874
5. Agbaga M.-P. Retinal very long-chain PUFAs: new insights from studies on ELOVL4 protein / M.P. Agbaga, M.N. a Mandal, R.E. Anderson // Journal of lipid research. – 2010. – № 7 (51). – P. 1624-1642
6. Novel nonsense mutation of ABHD5 in Dorfman- Chanarin syndrome with unusual findings: A challenge for genotype-phenotype correlation / S. Aggarwal [et al.] // European Journal of Medical Genetics. – 2012. – № 3 (55). – P. 173-177
7. Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia / M.A. Aldahmesh [et al.] // American Journal of Human Genetics. – 2011. – № 6 (89). – P. 745-750
8. Refsum Disease Presenting with a Late-Onset Leukodystrophy / F. Bompaire [et al.] // JIMD reports. – 2015. – Vol. 19. – P. 7-10
9. Identification of PEX7 as the second gene involved in Refsum disease / D.M. van den Brink [et al.] // American journal of human genetics. – 2003. – № 2 (72). – P. 471-477
10. Craiglow B.G. Ichthyosis in the newborn / B.G. Craiglow // Seminars in Perinatology. – 2013. – Vol. 37. – № 1. – P. 26-31
11. Devinsky O. Sudden unexpected death in epilepsy / O. Devinsky // The New England journal of medicine. – 2011. – № 19 (365). – P. 1801-1811
12. S jogren-Larsson s yndrome / L .A. D utra [ et a l.] / / Advances in Experimental Medicine and Biology. –2012. – №. 724. – P. 344-350
13. Fischer J. Autosomal Recessive Congenital Ichthyosis / J. Fischer // Journal of Investigative Dermatology. – 2009. – Vol. 129. – P. 1319-1321
14. SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies / A. Fraldi [et al.] // The Biochemical journal. – 2007. – № 2 (403). – P. 305-312
15. CEDNIK syndrome results from loss-of-function mutations in SNAP29 / D.Fuchs-Telem [et al.] // British Journal of Dermatology. – 2011. – № 3 (164). – P. 610-616
16. Sjögren-Larsson syndrome in clinical practice / J.Fuijkschot [et al.] // Journal of Inherited Metabolic Disease. 2012. – Vol. 35. – № 6. – P. 955-962
17. Gånemo A. Sjögren-Larsson syndrome: A study of clinical symptoms and dermatological treatment in 34 Swedish patients / A. Gånemo, S. Jagell, A. Vahlquist // Acta Dermato-Venereologica. – 2009. – № 1 (89). – P. 68-73
18. Multiple sulfatase deficiency with neonatal manifestation / L. Garavelli [et al.] // Italian journal of pediatrics. – 2014. – Vol. 40. – P. 86
19. Cerebral lipid accumulation in chanarin-dorfman syndrome / M.C.D.G.Huigen [et al.] // Molecular Genetics and Metabolism. – 2015. – № 1 (114). – P. 51-54
20. Jayaram H. Midlife diagnosis of Refsum disease in siblings with retinitis pigmentosa - the footprint is the clue: a case report / H. Jayaram, S.M. Downes // Journal of medical case reports. – 2008. – № 2.– P. 80
21. Kaler S.G. Inborn errors of copper metabolism / S.G. Kaler // Handbook of Clinical Neurology. –2013. – Vol. 113. – P. 1745-1754
22. A child with night blindness: preventing serious symptoms of Refsum disease / A.Kohlschütter [et al.] // Journal of child neurology. – 2012. – № 5 (27). – P. 654-656
23. MEDNIK syndrome: A novel defect of copper metabolism treatable by zinc acetate therapy / D. Martinelli [et al.] // Brain. – 2013. – № 3 (136). – P. 872-881
24. Martinelli D. AP1S1 defect causing MEDNIK syndrome: A new adaptinopathy associated with defective copper metabolism / D. Martinelli, С. Dionisi-Vici // Annals of the New York Academy of Sciences. – 2014. – № 1 (1314). – P. 55-63
25. A patient with atypical multiple sulfatase deficiency / С. Miskin [et al.] // Pediatric Neurology. – 2016. – Vol. 57. – P. 98-100
26. Dorfman-Chanarin syndrome: a rare neutral lipid storage disease / S. Mitra [et al.] // Indian journal of pathology & microbiology. – 2010. – № 4 (53). – P. 799-801
27. Chanarin-dorfman syndrome: Genotype-phenotype correlation / B.G. Nur [et al.] // European Journal of Medical Genetics. – 2015. – № 4 (58). – СP. 238-242
28. Structural consequences of amino acid substitutions causing Tay-Sachs disease / K. Ohno [et al.] // Molecular Genetics and Metabolism. – 2008. – № 4 (94). – P. 462-468
29. Reiser G. Mechanism of toxicity of the branched-chain fatty acid phytanic acid, a marker of Refsum disease, in astrocytes involves mitochondrial impairment / G. Reiser, P. Schönfeld, S. Kahlert // Int J Dev Neurosci. – 2006. – Vol. 24, – №. 2-3. – P. 113-122
30. Rizzo W.B. Recognition and diagnosis of neuro-ichthyotic syndromes / W.B. Rizzo, S. Jenkens, P. Boucher // Seminars in Neurology. – 2012. – № 1 (32). – P. 75-84
31. The influence of the branched-chain fatty acids pristanic acid and Refsum disease-associated phytanic acid on mitochondrial functions and calcium regulation of hippocampal neurons, astrocytes, and oligodendrocytes / S. Rönicke [et al.] // Neurobiology of Disease. – 2009. – № 2 (36).– P. 401-410
32. Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency / F.Sabourdy [et al.] // Orphanet journal of rare diseases. – 2015. – Vol. 10. – P. 31
33. Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry / R.-J. Sanders [et al.] // J Chromatogr B Analyt Technol Biomed Life Sci. – 2009. – № 4 (877). – P. 451-455
34. Establishment of Two Mouse Models for CEDNIK Syndrome Reveals the Pivotal Role of SNAP29 in Epidermal Differentiation / S.A. Schiller [et al.] // Journal of Investigative Dermatology. – 2016. – № 3 (136). – P. 672-679
35. Takeichi T. Inherited ichthyosis: Non-syndromic forms / T. Takeichi, M. Akiyama // Journal of Dermatology. – 2016. – Vol. 43. – № 3. – P. 242-251
36. Phenotypic continuum of type 2 Gaucher’s disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher’s disease / H. Ben Turkia [et al.] // Journal of perinatology: official journal of the California Perinatal Association. – 2009. – № 2 (29). – P. 170-2
37. Sjögren-Larsson syndrome: Motor performance and everyday functioning in 17 patients / J. Verhoog [et al.] // Developmental Medicine and Child Neurology. – 2008. – № 1 (50). – P. 38-43
38. ABHD5/CGI-58, the Chanarin-Dorfman Syndrome Protein, Mobilises Lipid Stores for Hepatitis C Virus Production / G. Vieyres [et al.] // PLoS Pathogens. – 2016. – № 4 (12). doi: 10.1371/journal.ppat.1005568. eCollection 2016
39. Weinreb N.J. Imiglucerase and its use for the treatment of Gaucher’s disease / N.J. Weinreb // Expert opinion on pharmacotherapy. – 2008. – № 11 (9). – P. 1987-2000
40. Defective metabolism of leukotriene B4 in the Sjögren- Larsson syndrome / M. a Willemsen [et al.] // Journal of the neurological sciences. – 2001. – № 1 (183). – P. 61-67
41. Zhou Y. Arthrogryposis, renal dysfunction, cholestasis (ARC) syndrome: from molecular genetics to clinical features / Y. Zhou, J. Zhang // Italian journal of pediatrics. – 2014. – Vol. 40.1. – P. 1-7
2. Евтушенко С.К. Этиология и патогенез церебрального паралича у детей (новый взгляд на старую проблему) (лекция) / С.К. Евтушенко // Международный неврологический журнал. –2014. – № 65 (3). – С. 117-123
3. Нейромышечные заболевания у детей / С.К.Евтушенко [и др.] – Донецк: Издательство «Ноулидж», 2014. – 218 c.
4. Adams S.M. Sudden infant death syndrome / S.M. Adams, M.W. Good, G.M. Defranco // American Family Physician. – 2009. – Vol. 79. – № 10. – P. 870-874
5. Agbaga M.-P. Retinal very long-chain PUFAs: new insights from studies on ELOVL4 protein / M.P. Agbaga, M.N. a Mandal, R.E. Anderson // Journal of lipid research. – 2010. – № 7 (51). – P. 1624-1642
6. Novel nonsense mutation of ABHD5 in Dorfman- Chanarin syndrome with unusual findings: A challenge for genotype-phenotype correlation / S. Aggarwal [et al.] // European Journal of Medical Genetics. – 2012. – № 3 (55). – P. 173-177
7. Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia / M.A. Aldahmesh [et al.] // American Journal of Human Genetics. – 2011. – № 6 (89). – P. 745-750
8. Refsum Disease Presenting with a Late-Onset Leukodystrophy / F. Bompaire [et al.] // JIMD reports. – 2015. – Vol. 19. – P. 7-10
9. Identification of PEX7 as the second gene involved in Refsum disease / D.M. van den Brink [et al.] // American journal of human genetics. – 2003. – № 2 (72). – P. 471-477
10. Craiglow B.G. Ichthyosis in the newborn / B.G. Craiglow // Seminars in Perinatology. – 2013. – Vol. 37. – № 1. – P. 26-31
11. Devinsky O. Sudden unexpected death in epilepsy / O. Devinsky // The New England journal of medicine. – 2011. – № 19 (365). – P. 1801-1811
12. S jogren-Larsson s yndrome / L .A. D utra [ et a l.] / / Advances in Experimental Medicine and Biology. –2012. – №. 724. – P. 344-350
13. Fischer J. Autosomal Recessive Congenital Ichthyosis / J. Fischer // Journal of Investigative Dermatology. – 2009. – Vol. 129. – P. 1319-1321
14. SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies / A. Fraldi [et al.] // The Biochemical journal. – 2007. – № 2 (403). – P. 305-312
15. CEDNIK syndrome results from loss-of-function mutations in SNAP29 / D.Fuchs-Telem [et al.] // British Journal of Dermatology. – 2011. – № 3 (164). – P. 610-616
16. Sjögren-Larsson syndrome in clinical practice / J.Fuijkschot [et al.] // Journal of Inherited Metabolic Disease. 2012. – Vol. 35. – № 6. – P. 955-962
17. Gånemo A. Sjögren-Larsson syndrome: A study of clinical symptoms and dermatological treatment in 34 Swedish patients / A. Gånemo, S. Jagell, A. Vahlquist // Acta Dermato-Venereologica. – 2009. – № 1 (89). – P. 68-73
18. Multiple sulfatase deficiency with neonatal manifestation / L. Garavelli [et al.] // Italian journal of pediatrics. – 2014. – Vol. 40. – P. 86
19. Cerebral lipid accumulation in chanarin-dorfman syndrome / M.C.D.G.Huigen [et al.] // Molecular Genetics and Metabolism. – 2015. – № 1 (114). – P. 51-54
20. Jayaram H. Midlife diagnosis of Refsum disease in siblings with retinitis pigmentosa - the footprint is the clue: a case report / H. Jayaram, S.M. Downes // Journal of medical case reports. – 2008. – № 2.– P. 80
21. Kaler S.G. Inborn errors of copper metabolism / S.G. Kaler // Handbook of Clinical Neurology. –2013. – Vol. 113. – P. 1745-1754
22. A child with night blindness: preventing serious symptoms of Refsum disease / A.Kohlschütter [et al.] // Journal of child neurology. – 2012. – № 5 (27). – P. 654-656
23. MEDNIK syndrome: A novel defect of copper metabolism treatable by zinc acetate therapy / D. Martinelli [et al.] // Brain. – 2013. – № 3 (136). – P. 872-881
24. Martinelli D. AP1S1 defect causing MEDNIK syndrome: A new adaptinopathy associated with defective copper metabolism / D. Martinelli, С. Dionisi-Vici // Annals of the New York Academy of Sciences. – 2014. – № 1 (1314). – P. 55-63
25. A patient with atypical multiple sulfatase deficiency / С. Miskin [et al.] // Pediatric Neurology. – 2016. – Vol. 57. – P. 98-100
26. Dorfman-Chanarin syndrome: a rare neutral lipid storage disease / S. Mitra [et al.] // Indian journal of pathology & microbiology. – 2010. – № 4 (53). – P. 799-801
27. Chanarin-dorfman syndrome: Genotype-phenotype correlation / B.G. Nur [et al.] // European Journal of Medical Genetics. – 2015. – № 4 (58). – СP. 238-242
28. Structural consequences of amino acid substitutions causing Tay-Sachs disease / K. Ohno [et al.] // Molecular Genetics and Metabolism. – 2008. – № 4 (94). – P. 462-468
29. Reiser G. Mechanism of toxicity of the branched-chain fatty acid phytanic acid, a marker of Refsum disease, in astrocytes involves mitochondrial impairment / G. Reiser, P. Schönfeld, S. Kahlert // Int J Dev Neurosci. – 2006. – Vol. 24, – №. 2-3. – P. 113-122
30. Rizzo W.B. Recognition and diagnosis of neuro-ichthyotic syndromes / W.B. Rizzo, S. Jenkens, P. Boucher // Seminars in Neurology. – 2012. – № 1 (32). – P. 75-84
31. The influence of the branched-chain fatty acids pristanic acid and Refsum disease-associated phytanic acid on mitochondrial functions and calcium regulation of hippocampal neurons, astrocytes, and oligodendrocytes / S. Rönicke [et al.] // Neurobiology of Disease. – 2009. – № 2 (36).– P. 401-410
32. Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency / F.Sabourdy [et al.] // Orphanet journal of rare diseases. – 2015. – Vol. 10. – P. 31
33. Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry / R.-J. Sanders [et al.] // J Chromatogr B Analyt Technol Biomed Life Sci. – 2009. – № 4 (877). – P. 451-455
34. Establishment of Two Mouse Models for CEDNIK Syndrome Reveals the Pivotal Role of SNAP29 in Epidermal Differentiation / S.A. Schiller [et al.] // Journal of Investigative Dermatology. – 2016. – № 3 (136). – P. 672-679
35. Takeichi T. Inherited ichthyosis: Non-syndromic forms / T. Takeichi, M. Akiyama // Journal of Dermatology. – 2016. – Vol. 43. – № 3. – P. 242-251
36. Phenotypic continuum of type 2 Gaucher’s disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher’s disease / H. Ben Turkia [et al.] // Journal of perinatology: official journal of the California Perinatal Association. – 2009. – № 2 (29). – P. 170-2
37. Sjögren-Larsson syndrome: Motor performance and everyday functioning in 17 patients / J. Verhoog [et al.] // Developmental Medicine and Child Neurology. – 2008. – № 1 (50). – P. 38-43
38. ABHD5/CGI-58, the Chanarin-Dorfman Syndrome Protein, Mobilises Lipid Stores for Hepatitis C Virus Production / G. Vieyres [et al.] // PLoS Pathogens. – 2016. – № 4 (12). doi: 10.1371/journal.ppat.1005568. eCollection 2016
39. Weinreb N.J. Imiglucerase and its use for the treatment of Gaucher’s disease / N.J. Weinreb // Expert opinion on pharmacotherapy. – 2008. – № 11 (9). – P. 1987-2000
40. Defective metabolism of leukotriene B4 in the Sjögren- Larsson syndrome / M. a Willemsen [et al.] // Journal of the neurological sciences. – 2001. – № 1 (183). – P. 61-67
41. Zhou Y. Arthrogryposis, renal dysfunction, cholestasis (ARC) syndrome: from molecular genetics to clinical features / Y. Zhou, J. Zhang // Italian journal of pediatrics. – 2014. – Vol. 40.1. – P. 1-7
Опубликована
2017-09-28
Как цитировать
ЕВТУШЕНКО, С. К. et al.
НАСЛЕДСТВЕННЫЕ ФОРМЫ НЕЙРОИХТИОЗА: ОТ СИНДРОМАЛЬНОГО ПОДХОДА К ВЕРИФИКАЦИИ ДИАГНОЗА.
Университетская клиника, [S.l.], v. 12, n. 2, p. 89 - 94, сен. 2017.
ISSN 1819-0464. Доступно на: <http://journal.dnmu.ru/index.php/UC/article/view/38>. Дата доступа: 24 апр. 2024
Раздел
В помощь практикующему врачу
