Prader-Karin ciwo

Prader-Karin ciwo - a rare kwayoyin cuta, wani irin hereditary watsa ba kafa a kwanan. Da farko Prader-Karin ciwo da aka bayyana a cikin shekarar 1959 ta Swiss pediatrician H. Karin kuma A. Prader, kuma wanda bashin da sunan da. Wannan Pathology kuma ake kira ciwo na uku «hypo» (hypotonia, hypogonadismus, hypomentia): murdede hypotonia, gigin-tsufa da kuma hypogonadism. Bugu da kari, na asibiti hoto ne ba low girma da kuma acromicria - da kananan size hannun da ƙafafunsa. A cuta ne mai hadaddun kwayoyin munanan wanda ake daukar kwayar cutar a cikin wani autosomal recessive hanya, ciwo ya auku mafi sau da yawa harben, amma akwai lokuta na iyali data. Kamar yadda mai mulkin, cytogenetic nazarin kada su bayyana munanan.

Domin wannan Pathology ne na hali hade da irin wannan cututtuka kamar yadda mai tsanani shafi tunanin mutum retardation da cerebral kiba, short jiki, da kuma dysplastic gipogenitalizme sabon abu. Na bayar da muhimmanci a cikin pathogenesis wannan cuta ba hypothalamic tabarbarewa. Tasiri hanyoyin da rigakafin da magani na musamman domin Prader-Karin ciwo ne yanzu ba babu.

A ci gaba da cutar, akwai biyu bulan. Jim kadan bayan haihuwar yaro ne bikin tsanani hypotonia. A bayyanar cututtuka suna haka furta cewa yara ba zai iya yin maras wata-wata ƙungiyoyi, da kuma, mafi sharrin duk, ba zai iya tsotse, don haka dole ka ciyar da su daga wani pipette, ko ta hanyar wata tube. A sakamakon haka ne mai tsanani tsoka hypotonia da kuma jinkirta samuwar locomotor canzawa ayyuka - yara ba zai iya rike kaina up, zauna, da dai sauransu Bugu da kari, akwai wani hali da hypothermia ..

A ci gaba da gaba mataki faruwa a cikin 'yan makonni (watanni), yawanci da karshen na farko da farkon na shekara ta biyu na rayuwa. Alamun hypotension an rage, da kuma ci gaba bulimia, a cikin abin da yara fuskanci m yunwa, suna rayayye neman abinci. A sakamakon haka, shi zai fara zuwa ci gaba kiba, wanda yana da matukar rarrabe tsari na rarraba subcutaneous mai - mafi yawansu shi ne located a kan proximal extremities (kwatangwalo da kuma kafadu) da jiki, don haka abin da hannuwansu da ƙafãfunsu suke disproportionately kananan goga. Bugu da kari, a cikin wannan lokaci da cutar bayyana kanta shafi tunanin mutum retardation: impeded magana, ƙamus zama mai iyaka. Halin da fitowan da hypogonadism: boys shi aka bayyana a cikin hypoplasia na azzakari a cikin 'yan mata - a cikin hypoplasia na labia. A mafi yawan lokuta, Prader-Karin ciwo yana tare da ciwon sukari mellitus.

Dalili ga ganewar asali da wannan cuta ne ganewa na wani sa na hankula bayyanar cututtuka, kamar yadda cytogenetic nazarin da karyotyping da bã su bayyana wani peculiarities. M rarrabe biyu main kungiyoyin na asibiti ãyõyi: kiyaye daga haihuwa zuwa shekara uku da haihuwa da kuma bayyana kanta a cikin fiye da shekaru uku. Na farko rukuni na ãyõyi sun hada da: low haihuwa nauyi, hypotonia da kuma ciyar da matsaloli. Popular sau da yawa, mahaifiyar ce sosai rauni, suma fetal ƙungiyoyi a cikin perinatal lokaci. Wani lokaci har zuwa watanni shida da haihuwa da wani ƙara drowsiness, seizures, lethargy kuma barci apnea. Characteristically jinkirta psychomotor ci gaba da kuma dysmorphia (almond- siffar da idanu, mai fadi bifrontalny diamita da kuma saukar da sasanninta na bakinka).

Prader-Karin ciwo ne mai phenotypic kama da nakasar cuta kamar yadda hypothyroidism, wanda aka kuma halin da murdede hypotonia, wuce kima shaida na mai a hankula filin jinkirta psychomotor bunkasuwa.

A ra'ayi na kasancewa na wani m tsararru na cututtuka, samun da sunan daga farko bayyana koyarwarsu, akwai wasu rikice. Popular sau da yawa, Prader-Karin ciwo ne ake kira da "cuta Villi Brandta", ko da yake cutar na da cikakken kõme ba yi da Jamus siyasa Willy Willy Brandt, wanda shine na hudu Tarayya Chancellor na Jamus (1969-1974).