Zizindikiro ndi Njira Zothandizira kwa Carpenter Syndrome

Matenda a carpenter ndi mbali ya matenda a majeremusi omwe amatchedwa acrocephalopolysyndactyly (ACSP). Matenda a ACPS amadziwika ndi nkhani ndi chigaza, zala, ndi zala. Nthawi zina matabwa a kalipentala amatchedwa ACPS mtundu wachiwiri.

Zizindikiro ndi Zizindikiro za Matabwa a Carpenter Syndrome

Zina mwa zizindikiro zambiri za Carpenter syndrome zimaphatikizapo chiwerengero cha polydactyl kapena kukhalapo kwa zala zina kapena zala zina.

Zizindikiro zina zowonjezereka zimaphatikizapo kugwirana pakati pa zala ndi mutu wapamwamba wa mutu, wotchedwanso acrocephaly. Anthu ena ali ndi nzeru zopanda nzeru, koma ena omwe ali ndi matenda a Carpenter ali ndi luso lodziwika bwino. Zizindikiro zina za Carpenter syndrome zingaphatikizepo izi:

• Kutsekedwa koyambirira (amalumikizidwe) (cranial sutures) a gaga, wotchedwa craniosynostosis. Izi zimayambitsa chigaza kukula mosavuta ndipo mutu ukhoza kuwoneka waufupi komanso wochuluka (brachycephaly)
• Maonekedwe a nkhope monga otsika, makutu osalimba, mlatho wamphuno wamphongo, mphuno yowonongeka, mapepala am'thumba (palpebral fissures), tchire tochepa kwambiri komanso / kapena nsagwada.
• Zing'onoting'ono zazing'ono ndi zala zachitsulo (brachydactyly) ndi nsalu zofiira kapena zokopa zala kapena zala (syndactyly).

Komanso, anthu ena omwe ali ndi matenda a Carpenter akhoza:

• Kubadwa kwa mwana (pakubereka kwake) kufooka kwa mtima pakati pa theka ndi theka la anthu

• mimba yake ya m'mimba
• mayesero osakondweretsa amuna
• msinkhu
• kuchepa kwa maganizo pang'ono

Kukula kwa Matabwa a Carpenter Syndrome

Ku United States, muli pafupifupi 300 milandu yotchuka ya Carpenter syndrome. Ndi matenda osadziwika kwambiri; 1 mwa 1 miliyoni obadwa obadwa amakhudzidwa.

Ndi matenda opatsirana a autosomal.

Izi zikutanthauza kuti makolo onse awiri ayenera kuti adakhudza majini kuti apereke mwanayo. Ngati makolo awiri ali ndi majini amenewa ali ndi mwana yemwe sasonyeza zizindikiro za Carpenter syndrome, mwanayo akadali wothandizira ma jini ndipo amatha kupitilira ngati mnzakeyo ali nawo.

Mmene Matabwa a Kalipentala Amadziwira

Popeza matenda a Carpenter ndi matenda a chibadwa, khanda limabadwa nalo. Kusanthula kumachokera pa zizindikiro zomwe mwanayo ali nazo, monga maonekedwe a chigaza, nkhope, zala, ndi zala. Palibe kuyesa magazi kapena X-ray yofunikira; Matenda a kalipentala nthawi zambiri amapezeka kuti amangofufuza okha.

Chithandizo

Kuchiza kwa Matenda a Carpenter kumadalira zizindikiro zomwe munthu ali nazo ndi kuuma kwa chikhalidwecho. Kuchita opaleshoni kungafunikire ngati kachilombo ka mtima kakuwopsya. Opaleshoni ingagwiritsidwenso ntchito kukonzanso craniosynostosis mwa kulekanitsa mafupa osapsa osadziwika kuti alole kukula kwa mutu. Izi kawirikawiri zimachitika pang'onopang'ono kuyambira kuyambira ali wakhanda.

Kupatula kupatulira kwala zala ndi zala zazing'ono, ngati n'kotheka, zingapereke maonekedwe owoneka bwino koma osati kusintha ntchito; Anthu ambiri omwe ali ndi matenda a Carpenter amayesetsa kugwiritsa ntchito manja awo molakwika ngakhale atatha opaleshoni.

Mankhwala, ntchito, ndi mauthenga angathandize munthu amene ali ndi matenda a Carpenter akufika pazomwe angakwanitse.

_Zotsatira:

_{Laibulale ya National National Medicine. "Misiri wa Matabwa." 2007}

_{Kleppe, S. "Carpenter Syndrome". National Organization for Rare Disorders , 2015.}