
keatel syndrome

keatel syndrome (ks) anedi asaadhaaranamaina autosomal recessive janyu rugmata, idhi asaadhaaranamaina vyaapti cartilege calcification, madhya-mukham yokka hypoplasia, paridheeya pulmonary stenosis, vinikidi nashtam, vella yokka chinna distal falanges (chitkaalu) mariyu telikapati manasika mandagimpu dwara vargeekarinchabadutundi. ks unna vyaktulu tarachugaa paridheeya pulmonary stenosis, brachitelefalangism, vaalu nuditi, madhya mukha hypoplasia mariyu gaddam taggadam vantivi kaligi untaaru. idhi matricks glaa protein, "mgp" kosam janyu codinglo asaadhaaranatalatoo mudipadi untundi. autosomal recessive desorder kaavadamtho, idhi prabhaavitam kaani, asaadhaaranamaina mgp-mosukelle tallidandrula nundi vaarasatvamgaa raavacchu. anduvalla, rendu prabhaavita "mgp" yugmavikalpalanu vaarasatvamgaa pondina vyaktulu ks nuu vaarasatvamgaa pondutaaru.
idhi 1972loe mottamodata arudaina janyu rugmatagaa gurtinchabadindi, idhi chondrodisplasia panktataatho saaruupya lakshanaalanu panchukuntundi. aneka rakaala condrodisplasia panktata, ks thoo sthiramgaa unde lakshanaalanu panchukuntaayi, veetilo asaadhaarana mrudulaasthi calcification, balavantamgaa swaasa teesukovadam, brachitelefalangism, hypotonia, psychomotor alasyam mariyu conductive chevititanam, inca paridheeya pulmonary stenosis ks kuu pratyaekamainadigaa untundi.
prabhaavita vyaktulalo chromosome asaadhaaranatalu nivedinchabadaledu, kutumba raktasambandhata anedi autosomal recessive mode off inheritensto sambandham kaligi undani suuchistumdi. alaage, swarapetika, swaasanaala chettu, mukku, pinna (anatomy) mariyu epiglotis vanti praantaalalo chaalaa varaku asaadhaaranamaina calcification unnappatikee, rogulu saadhaarana seeram calcium mariyu fasfate sthaayilanu pradarsistaaru.
sankethaalu mariyu lakshanaalu.
chaalaa arudaina autosomal janyu rugmata kaavadamtho, bhedaatmaka roganirdhaarana 1972 nundi aneka kesulaku matrame daariteesindi. prarambha roganirdhaarana vaalu nuditi, maxillary hypoplasia, nasika vantena maandyam, vistruta noru, dantha maloclusion mariyu gaddam taggadam vanti mukha asaadhaaranatalaku daariteestundi. aatmavisvaasamto rooga nirdhaarana kosam electroencephalography (eejee), computed tomography (ct) scanning mariyu asthipanjara survey marinta avasaram. saadhaaranamgaa, diffuse cartilege calcification mariyu brachitelefalangism ex-radiation (ex-rae) dwara gurtinchabadataayi, ayithe paridheeya pulmonary arterial stenosis, vinikidi lopam, dysmorphic faceelu mariyu manasika mandagimpu paina perkonna roganirdhaarana paddhatula dwara vishwaasamtho nirdhaarinchabadataayi.
asthipanjara prabhavalu.
asthipanjara muulam yokka aneka asaadhaaranatala dwara rooga nirdhaarana tarachugaa nirdhaarinchabadutundi. carmode mariyu itarula prakaram, phalitaala varusa kramam undhi.idhi asaadhaarana mrudulaasthi calcification mariyu taruvaata brachitelefalangism loe praarambhamavutundi. ks loe brachitelefalangi yokka pratyekata phalitamgaa naalugo distal falangla dwara modata vilakshanamgaa vistarinchi, kudinchabadutundi, ayithe aidava distal falancs emuka prabhaavitam kakunda untundi. radiography mukha hypoplasiatho sahaa aneka asthipanjara kramaraahityaalanu kooda velladistundi, dheeni phalitamgaa nasika vantena abhivruddhi chendanidi, alassi gamaninchadagga vidhamgaa taggutundi. mukha lakshanaalanu gurtinchadaginavigaa kakunda, rogulu saadhaaranamgaa sagatu sthaayi kante takkuva sthaayini mariyu saadhaarana telikapati abhivruddhi alasyanni pradarsistaaru.
cartilogenous prabhavalu.
cartilogenous muulam nundi udbhavinchina condrodisplasia panktata thoo saaruupyatanu panchukune aneka saadhaarana prabhavalu. radiography vistrutamaina vyaapinchina cartilogenous calcification nuu velladistundi. pulmonary angiography mariyu saft tissue radiography tarachugaa swaasanaalam mariyu swarapetikalo gananeeyamaina cartilogenous ossificationnu pradarsistaayi, perikhandral mariyu endocondral kendraalu roopaantaram chendina mrudulaasthiloo gananeeyamgaa ossify cheyabadataayi. asaadhaaranamaina vyaapti chendina cartilogenous ossification saadhaaranamgaa swaasanaalam mariyu swarapetika yokka karnikalu mariyu mrudulaasthiloo ekkuvagaa kanipistundi, ayithe paridheeya pulmonary stenosis tarachugaa ks loe saadhaaranam. ks unna pillala raktaprasarana tallidandrulalo, okati tarachugaa samalakshanaparamgaa saadhaaranamainadi, marokati pulmonary stenosisku sanukoolamgaa untundi. bahusha diffuse lauringotracial calcification nundi veluvade rogulu tarachugaa punaraavruta swaasakosha sankramana, otitis media mariyu sinusities thoo untaaru.
hridaya sambandha prabhavalu.
pulmanarylo asaadhaarana cartilogenous calcification mariyu vict otic systems kakunda, rogulu sareeram antataa gananeeyamaina arterial calcification abhivruddhi chestaaru. atuvanti calcification madhumeham, atherosclerosis mariyu moothrapindaala panicheyakapovadam vanti vividha vyaadhulatoe sahasambandham kaligi untundi, ayithe noti anticoagulant vadakam unna rogulaku gananeeyamaina bruhaddhamani kavaatam mariyu coronary artary calcification untundi. ks kuu vilakshanamainadi kaanappatikee, ecocardiogram vislaeshanha kudi ventricular hypertropheny velladinchindi, phalitamgaa aneka sandarbhaallo teevramaina pulmonary artary hyper tension erpadutundi.
vyadhikaaraka.
keatel syndrome anedi matricks glaa protein janyuvu (emm. zii. pii) loe kotta paniteeru nashtam mutation valla kalige autosomal recessive desorder. emm. zii. pii. protein extra cellular matricks loe untundi mariyu emuka marphogenetic protein 2 (bii. emm. pii. 2) yokka anachiveta ayinappatikee calcification nirodhinchadamlo chikkukundi. utparivartana phalitamgaa exon 2-intron 2 junctionlalo ekaabhipraaya daata splies sait kolpovadam valla mruduvaina kanajaala mrudulaasthi yokka gananeeyamaina vyaapti calcificationku daariteestundi. vistrutamaina vyaapinchina cartilogenous calcification mgp-nockawoot elukalalo untundi, idhi cartilogenous, condrocyte lanty maatrukato vascular media bharteelo vyaktamavutundi mariyu chivariki akaala maranam. dheeniki viruddhamgaa, extracellular mgp yokka vyakteekarana samarthavantamgaa condrocyteslo calcificationnu raddu chestundi, mruduvaina kanajaalaalo nishkriyaatmaka calcificationnu nirodhinchadamlo mgp panichestundani suuchistumdi. iteevali aadharalu emm. zii. pii. anedi kondrosaitlu mariyu vascular smooth kandaraala kanaala dwara samslaeshanha cheyabadina vitamin keey aadhaarita protein anie suuchistunnaayi, ikkada idhi cartilogenous mariyu arterial calcification yokka nirodhaanni saktivantam chestundi. anduvalla, poeshaka lopam ledhaa coomarin-utpanna upayogam dwara sambhaavya vitamin keey lopam, mgp nuu carboxylated mariyu kriyaarahitamgaa chestundi, tadwara jeeva paniteeru taggutundi. emm. zii. pii. nishkriyaatmakata phalitamgaa dhamanula calcification anedi pratikuula rooga niroopanaku daariteestundi, idhi saadhaaranamgaa madhumeham, atherosclerosis mariyu moothrapindaala panicheyakapovadam unna rogulalo kanipistundi.
chikitsa.
chikitsa anedi rogalakshanamainadi, tarachugaa paridheeya pulmonary artary stenosisto sambandham unna suuchikalanu parishkaristundi. dyspnia mariyu balavantamgaa swaasa teesukovadamlo phalitamgaa vachhe swarapetika calcificationku chinna mariyu deerghakaalam panichese β2-agonists mariyu vividha anticholinergiclatho sahaa brancodylatorstho chikitsa cheyavachu.
rooga niruupana.
rooga niruupana manchidi, ayinappatikee ayurdayam anedi vistarinchina pulmonary mariyu arterial calcification yokka teevrata mariyu paridhi meeda aadharapadi untundi.
charitra.
keatel syndromenu modatisaarigaa 1972loe pediatric cardiologist jurgen keatel mariyu sahacharulu germanyloni gottingenlo varninchaaru.

