
baracut syndrome

hypoparathyroidism, censorinural badhiratha, vrukkasambandhamaaya rogam ennivayude savisheshathayulla apoorva rogamaanu baracut syndrome, athinaal ithu echdr syndrome ennum ariyappedunnu. aamin jeey aanu ithu aadyamaayi vivarichathu. barakat thudangiyavar. 1977ll.
avatharanam.
hypoparathyroidism, censorinural badhiratha, vrukkasambandhamaaya rogam ennivayude savisheshathakalulla klinikkal vaividyamulla oru janithaka vikasana vaikalyamaanith. rogabadhitharaaya aalukalkk saadhaaranayaayi eathu praayatthilum hypocalcemia, tettani allengil affibrile invalutionukal undaakunnu. kelvikkuravu saadhaaranayaayi ubhaykakshi aanu, ithu neriyatho aazhathilullatho aaya vaikalyam vare aakam. vrukkasambandhamaaya rogangalil nephrotic syndrome, sistik kidney, vrukkasambandhamaaya dysplasia, hypoplasia allengil applasia, pelvicalyseal vaikalyam, vesikauttaral reflexes, vittumaaraatha vrukka rogam, hematturiya, proteinuria, vrukkasambandhamaaya paadukal enniva ulppedunnu.
report cheyyappetta mattu savisheshathakalil iva ulppedunnu boudhika vaikalyam, poolisistik andashayangal, prathyeka mukha savisheshathakal, ischemic strock, rettinaitis pigmentosa.
janithakashasthram.
bhooribhaagam kesukalilum eee vaikalyam 10p chromosomilake mapp cheythittundu (jeane mapp locasa 10pter-p13 allengil 10p14-p15.1). sink-viral transcription factor gaatta 3-nte aparyapthatha (illaathaakkal) allengil gaatta 3 jeenile mutationukalaanu eee syndrominte adisthaana kaaranam. ithu procensory domaininte savisheshathayile paraajayathinu kaaranamaakukayum pinneedu cochlear dakttile koshangalude maranam vardhippikkukayum angane badhirathaykk kaaranamaakukayum cheiyunnu.
rogabadhitharaaya aalukalil phenotypic vyathiyaanathinte spectrum valare valuthaanu ennathinaal, baracut (echdr) syndrome orupakshe kuranja nuzhanjukayattamulla aparyapthamaaya rogamaayi uyarnnuvarunnu, athil avarude janithaka pashchaathalam rogathinte theevrathayil pradhana punk vahikkunnu.
anantharaavakaasham orupakshe autosomal aadipathyamullathaanu.
roganirnayam.
rogabadhithanaaya oro vyakthikkum samagramaya roganirnayam nadathukayum badhiratha, parathyroid, vrukkasambandhamaaya rogangal ennivaykkaayi sahodarangale padikkukayum venam. chromosome 10pii takaraar ulla sisukkalil, moothranaaliyile asaadhaaranathakalude nannayi nirvachikkapetta phenotypeukal ullavaril syndrome pariganikkanam.
chikitsa.
avatharanasamayathu klinikkal asaadhaaranathakal chikilsikkunnathu maanejmentil ulppedunnu, koodaathe janithaka kaunsiling, kaalsyam shariyaakkal, kelvi prasnangal chikilsikkal, vrukkayude pravartthanam nireekshikkal, vrukkayile sisttukalude sookshumamaaya nireekshanam enniva ulppedunnu.
pravachanam.
roganirnayam vrukkarogathinte theevrathaye aasrayichirikkunnu. rogam mithamaanengil aayurdairkhyathe baadikkilla.
epidemiology.
aavruthi anjjaathamaanu, pakshe rogam valare apoorvamaayi kanakkaakkappedunnu. purushanmareyum sthreekaleyum baadhichathaayi rekhappeduthiyittundu. hypoparathyroidism, censorinural badhiratha, vrukka (vrukka) rogam enniva moolam. ennirunnaalum, prathyeka lakshanangalum theevrathayum vyathyaasappedaam. baracut syndrome ullavaril ekadesham 65 sathamaanam perkkum hypoparathyroidism, censorinural badhiratha, vrukkarogam enniva orumichu undu.

