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Vojnosanitetski pregled
2019, vol. 76, br. 5, str. 543-546
jezik rada: engleski
vrsta rada: prikaz slučaja
doi:10.2298/VSP170406120I

Creative Commons License 4.0
GLUT1 sindrom deficijencije - prikaz bolesnika sa mutacijom u SLC2A1 genu
Univerzitet u Beogradu, Medicinski fakultet

e-adresa: nikola.ivancevic.npk@gmail.com

Projekat

Analiza genetičkih markera mišićne distonije (MPNTR - 175091)

Sažetak

Uvod. GLUT1 sindrom deficijencije (GLUT1 DS, OMIM 606777) je metaboličko oboljenje mozga uzrokovano mutacijom u SLC2A1 genu (hromozom 1) koji kodira transporter glukoze tip 1 lokalizovan na krvno-moždanoj barijeri. "Klasični" fenotip kod dece uključuje ranu pojavu generalizovane farmakorezistentne epilepsije, usporen psihomotorni razvoj, poremećaje pokreta i stečenu mikrocefaliju. Međutim, blaži fenotipovi bez pojave epilepsije mogu se videti i u kasnijem uzrastu. Ketogena dijeta je terapija izbora. Prikaz bolesnika. U radu je prikazana devojčica, uzrasta četiri godine sa farmakorezistentnom generalizovanom epilepsijom, paroksizmalnim distonijama, ataksijom, hipotonijom, usporenim razvojem (poremećajima motorike, pažnje i govora) i mikrocefalijom. Genetsko testiranje je otkrilo novu tačkastu mutaciju u c.156T > A (p.Y52X) na egzonu 3 SLC2A1 gena. Kod bolesnice je primećeno poboljšanje u kliničkom nalazu na primenu ketogene dijete. Zaključak. GLUT1 DS je lečiva neurološka bolest, koja je verovatno nedovoljno prepoznata. Ketogena dijeta dovodi do povoljne kontrole napada kod dece, a doprinosi izvesnom poboljšanju u neurološkom nalazu.

Ključne reči

sindrom deficijencije glut1; dijagnoza; dijeta; ketogena; lečenje; ishod

Reference

Akman, C.I., Provenzano, F., Wang, D., Engelstad, K., Hinton, V., Yu, J., Tikofsky, R., Ichese, M., de Vivo, D.C. (2015) Topography of brain glucose hypometabolism and epileptic network in glucose transporter 1 deficiency. Epilepsy Research, 110: 206-215
Auburger, G., Ratzlaff, T., Lunkes, A., Nelles, H.W., Leube, B., Binkofski, F., Kugel, H., Heindel, W., Seitz, R., Benecke, R., Witte, O.W., Voit, T. (1996) A Gene for Autosomal Dominant Paroxysmal Choreoathetosis/Spasticity (CSE) Maps to the Vicinity of a Potassium Channel Gene Cluster on Chromosome 1p, Probably within 2 cM between D1S443 and D1S197. Genomics, 31(1): 90-94
Barañano, K.W., Hartman, A.L. (2008) The ketogenic diet: Uses in epilepsy and other neurologic illnesses. Current Treatment Options in Neurology, 10(6): 410-419
Brockmann, K. (2009) The expanding phenotype of GLUT1-deficiency syndrome. Brain and Development, 31(7): 545-552
de Giorgis, V., Teutonico, F., Cereda, C., Balottin, U., Bianchi, M., Giordano, L., Olivotto, S., Ragona, F., Tagliabue, A., Zorzi, G., Nardocci, N., Veggiotti, P. (2015) Sporadic and familial glut1ds Italian patients: A wide clinical variability. Seizure, 24: 28-32
de Giorgis, V., Veggiotti, P. (2013) GLUT1 deficiency syndrome 2013: Current state of the art. Seizure, 22(10): 803-811
de Vivo, D.C., Trifiletti, R.R., Jacobson, R.I., Ronen, G.M., Behmand, R.A., Harik, S.I. (1991) Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med, 325(10): 703-712
Gano, L.B., Patel, M., Rho, J.M. (2014) Ketogenic diets, mitochondria, and neurological diseases. Journal of Lipid Research, 55(11): 2211-2228
Klepper, J. (2012) GLUT1 deficiency syndrome in clinical practice. Epilepsy Research, 100(3): 272-277
Klepper, J., Leiendecker, B. (2007) GLUT1 deficiency syndrome: 2007 update. Developmental Medicine & Child Neurology, 49(9): 707-716
Larsen, J., Johannesen, K.M., Ek, J., Tang, S., Marini, C., Blichfeldt, S., Kibaek, M., von Spiczak, S., Weckhuysen, S., Frangu, M., Neubauer, B.A., Uldall, P., Striano, P., Zara, F., Kleiss, R. (2015) The role ofSLC2A1mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. Epilepsia, 56(12): e203-e208
Leen, W.G., Klepper, J., Verbeek, M.M., Leferink, M., Hofste, T., van Engelen, B.G., Wevers, R.A., Arthur, T., Bahi-Buisson, N., Ballhausen, D., Bekhof, J., van Bogaert, P., Carrilho, I., Chabrol, B., Champion, M.P., Coldwell, J., Clayton, P., Donner, E., Evangeliou, A. (2010) Glucose transporter-1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder. Brain, 133(3): 655-670
Melnikova, A.M.M., Korff, C.M. (2015) Clinical Variability of GLUT1DS. Seizure Disord, 29(2): 14. Received on April 06, 2017. Accepted on July 07, 2017
Pearson, T.S., Akman, C., Hinton, V.J., Engelstad, K., de Vivo, D.C. (2013) Phenotypic Spectrum of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS). Current Neurology and Neuroscience Reports, 13(4): 342-342
Pong, A.W., Geary, B.R., Engelstad, K.M., Natarajan, A., Yang, H., de Vivo, D.C. (2012) Glucose transporter type i deficiency syndrome: Epilepsy phenotypes and outcomes. Epilepsia, 53(9): 1503-1510
Post, R., Collins, A., Rotstein, M., Engelstad, K., de Vivo, D.C. (2010) The spectrum of movement disorders in Glut-1 deficiency. Mov Disord, 25(3): 275-81
Schneider, S.A., Paisan-Ruiz, C., Garcia-Gorostiaga, I., Quinn, N.P., Weber, Y.G., Lerche, H., Hardy, J., Bhatia, K.P. (2009) GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. Movement Disorders, 24(11): 1684-1688
Stafstrom, C.E., Rho, J.M. (2012) The Ketogenic Diet as a Treatment Paradigm for Diverse Neurological Disorders. Frontiers in Pharmacology, 3: 59-59
Weber, Y.G., Kamm, C., Suls, A., Kempfle, J., Kotschet, K., Schule, R., Wuttke, T.V., Maljevic, S., Liebrich, J., Gasser, T., Ludolph, A.C., van Paesschen, W., Schols, L., de Jonghe, P., Auburger, G., Lerche, H. (2011) Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. Neurology, 77(10): 959-964
Wong, H.Y., Chu, T.S., Lai, J.C., Fung, K.P., Fok, T.F., Fujii, T., Ho, Y.Y. (2005) Sodium valproate inhibits glucose transport and exacerbates Glut1-deficiency in vitro. Journal of Cellular Biochemistry, 96(4): 775-785