Izihloko ezishushu kunye neengxabano kwi-Stiff Person Spectrum Disorders (SPSD)
umhla: Septemba 2023
Ilungiselelwe liLungu le-SIC: UMario Cornejo-Olivas, MD
Authors: Bettina Balint, MD; Kailash Bhatia, MD, PhD
umhleli: Lorraine Kalia, MD, PhD
intshayelelo
I-Stiff person spectrum disorders (SPSD), kuquka i-Stiff Person Syndrome (SPS), zizifo ezinqabileyo ezinxulumene ne-autoimmune kunye ne-phenotype spectrum ebanzi ebangelwa zi-antibodies ezichasene ne-neuronal proteins. Okwangoku, kukho imingeni ebalulekileyo ekuxilongeni nasekulawuleni iSPSD. Apha uProf Bettina Balint kunye noProf. Kailash Bhatia baxoxa ngeminye yemingeni kunye neempikiswano malunga noxilongo, izifo ezinxulumene noko, kunye nonyango lweSPSD.
1. Ziziphi izinto ezinegalelo ekulibazisekeni ukuxilongwa kwe-stiff person spectrum disorders (SPSD)? Ngaba kufuneka uhlaziyo kwiikhrayitheriya zokuxilonga?
UNjingalwazi Bettina Balint
Izigulana ezine-SPSD zihlala zijongana ne-odyssey ende, ngokwesiqhelo iminyaka eliqela, phambi kokufumana uxilongo oluchanekileyo kunye nonyango. Eyona nto ixhaphakileyo yokuxilonga yi-orthopedic (isifo somnqonqo esiwohlokayo, kwaye utyando olungeyomfuneko okanye oluyingozi aluqhelekanga), ingqondo, ingqondo, okanye i-neurological disorder. Eyona nto ibalulekileyo apha kukuba oogqirha abaninzi abaqhelananga neenkcazo-ntetho zekliniki ze-SPSD, kungoko kufuneka sizame ukufumana imfundo engcono kunye nokuqonda ngakumbi.
Kwelinye icala, ukuxilongwa ngempazamo kweSPSD yingxaki eyandayo. Apha, uxilongo olungalunganga luhlala lusekwe kwiziphumo ezisezantsi zovavanyo lwe-antibody. Oku kunokuba yingozi kwizigulane kwixesha elitsha kunye nokwanda kwe-immunotherapies, kubandakanywa nokusetyenziswa ngokubanzi kwe-autologous hematopoietic stem cell transplantation.
Siyathemba ukuba yomibini le miba inokuqwalaselwa ngenkqubo ehlaziyiweyo yokuxilonga.
2. Yeyiphi inkqubela yakutshanje eyenziweyo malunga nophuhliso lwebiomarker yokuxilongwa kunye noxilongo lwe-SPSD?
UNjing Bettina Balint kunye noProf Kailash Bhatia
Ngokubanzi, ukuqhubela phambili okuphambili kulele ngaphakathi kokuchongwa kwee-antibodies ezahlukeneyo kunye nokuqonda ngcono indima yabo njenge-biomarker ye-immunopathophysiologies eyahlukeneyo.
3. Zeziphi iingxaki ezinokunxulunyaniswa neSPSD?
UNjing Bettina Balint kunye noProf Kailash Bhatia
Ukuba sahlulahlula i-SPSD ngokusisiseko se-immunopathophysiology, elona qela likhulu lelo linamajoni alwa ne-glutamic acid decarboxylase (GAD). I-Anti-GAD autoimmunity ibandakanya ezinye ii-syndromes ze-neurological ezifana ne-cerebellar ataxia, i-focal (idla ngokuba yi- temporal lobe) ukuxhuzula, kunye ne- limbic encephalitis. Ikwanxulumana ne-endocrinopathies eyahlukeneyo ye-autoimmune efana nohlobo loku-1 lweswekile kunye nesifo se-thyroid, kunye ne-anemia eyingozi kunye ne-vitiligo. Ngokwahlukileyo, iifom ze-paraneoplastic ze-anti-GAD SPSD zinqabile.
I-SPSD kunye ne-glycine receptors (GlyR) i-antibodies kufuneka ihlolwe i-thymoma. Ii-antibodies ze-GlyR zinokuthi zenzeke kunye ne-GAD antibodies, ngoko ke le nto ikhankanywe ngasentla iyasebenza nalapha. Izilwa-buhlungu ze-Amphiphysin luphawu olunamandla lomhlaza webele okanye wemiphunga. Iintlobo ngeentlobo ze-SPSD ezinezilwa-buhlungu ze-DPPX zinokuba ne-B cell malignancies kumlinganiselo omncinci wamatyala.
Ngokumalunga nolwandiso lwe-phenotypic spectrum ye-SPSD - okt, ngaphaya kokuqina, ukuqaqanjelwa kunye ne-hyperekplexia - ngokuqinisekileyo kukho i-phenotypes ene-myoclonus ebalaseleyo (oko uProf David Marsden wakubiza ngokuba "indoda eqinile exhuzulayo") kunye nezinye iimpawu zobuchopho (umz., ukuphazamiseka kwe-oculomotor kubandakanya ukuphambuka kwemehlo kunye ne-enzomcephaly indlala yemehlo). kunye ne-myoclonus (PERM). Kukwakho ukwahluka kunye nezinye iimpawu ezinxulumene ne-antibody njengoko kuchaziwe ngasentla: kunye ne-GAD antibodies, rhoqo i-cerebellar ataxia kunye nokuxhuzula kancinci; kunye ne-amphiphysin antibodies, myelopathy (umzekelo, nge-sensory ataxia); kunye ne-DPPX antibodies, urhudo oluhlala ixesha elide.
4. Liliphi elona xesha lilungileyo lokuqalisa unyango lwe-immunotherapy kwi-SPSD: kwangethuba xa kuthelekiswa nokulinda umthwalo wesifo? Ithini indlela yakho kumatyala aphikisayo?
UNjing Bettina Balint kunye noProf Kailash Bhatia
Le yimibuzo ebalulekileyo kwaye, ekugqibeleni, iimpendulo zifuna izifundo kunye nedatha esingenayo. Ngenxa yokuba uninzi lwezifo ze-CNS ze-autoimmune, i-paradigm itshintshele kunyango kwangoko, siyakuxoxa ngokuqalwa kwangoko kwe-immunotherapy nakwi-SPSD, ngenjongo yokumisa inkqubo yokuzikhusela komzimba nokuba iimpawu zangoku azikho mbi. Ezinye iimeko ziphendula kakuhle kunyango lokuqala (umzekelo, i-IVIG) kwaye ezinye azikwenzi. Unyango lwesibini lubandakanya i-Rituximab okanye i-Cyclophosphamide, okanye ukudibanisa zombini. Amanye amaziko anike ingxelo ngeempendulo eziluncedo kwi-autologous haematopoietic stem cell transplantation kwi-SPSD. Inqaku, kukho iimeko ezibonakala zingaphenduli kwi-immunotherapy (nangoku?), Kwaye umgaqo othi "musa ukulimaza" kufuneka ugcinwe engqondweni.