Lesch - Nyhan ciwo: photo na gado, da haddasawa, cututtuka, magani

Lesch ciwo - Nyhan dangana ga hereditary cututtuka cewa suna hade da rayuwa cuta. Haka kuma cutar bayyana kanta a cikin watannin farko na rayuwa. Shi ne mai hadarin gaske saboda shi ne ba da wani takamaiman far. Jiyya kawai taimaka wajen daidaita yanayin, amma ba gaba daya warkar da yaron, ta magance matsalar haddasawa. Menene halayen da wannan cuta? Mene ne alama na irin wannan ciwo?

definition

Daga cikin rare cuta da purine metabolism asirce mahaukaci Lesch - Nyhan. ciwo ya auku fiye da sau da yawa a boys, kamar yadda nasaba da X-chromosome. An hade da wani enzyme rashi, wanda ke haifar da musayar uric acid da aka karya, ta yawa qara. A jari na wannan abu ne da aka nuna m kuma na rayuwa neurological manifestations da kuma a kan wanda za a iya zargin rashin lafiya. The m hali na baby bukatar wani likita jarrabawa, wanda ya hada da taro da kuma bincike na kowa kayyade jarrabawa.

etiology

Mene ne dalilin da ciwo Lesch - Nyhan? A Sanadin wannan cuta suna kafe a kayyade cuta. Wannan yana nufin cewa da ci gaban da Pathology na gaban wani recessive gene a cikin uwar - jima'i-nasaba lahani. Details na aiwatar aka bayyana a kasa. A gaban wannan gene ba ko da yaushe kai ga ci gaban da ciwo - yiwuwar ne 25%. Domin tantance hadarin cuta, shi ne shawarar dauke da fitar likita da kwayoyin shawara.

a kayyade cuta

Syndrome Lesch - Nyhan (recessive yanayin gado, jima'i-nasaba) shi ne mai tsanani gaji cuta. An hade da wani rauni daga cikin gene HPRT (hypoxanthine-Bibyun phosphoribosyltransferase), wanda aka located a kan X-chromosome - a kan ta dogon hannu. A mata, akwai biyu irin chromosomes da maza da daya, wanda shi ne dalilin da ya sa kwayoyin cuta ne fiye da na kowa a cikin maza. A lokuta da ciwo a mata ne m, da kuma bayyanar za a iya dangana a X-inactivation.

biochemical siffofin

Saboda enzyme cuta bayyana ciwo Lesch - Nyhan. Biochemistry shi ne rashi na hypoxanthine-Bibyun. Karkashin al'ada yanayi, wannan enzyme akwai a cikin dukan Kwayoyin, kuma amma mafi yawan shi an samu a yawan neurons na kwakwalwa. Kwayoyin cuta take kaiwa zuwa ɓõye, sakamakon damuwa musayar hypoxanthine. Wannan samar matsanancin yawa daga uric acid wanda aka gano da kima a cikin fitsari da kuma jini. Shi ya sa marasa lafiya da cututtuka da gout.

Siffofi da wani cerebrospinal ruwa. Yana qara matakin na hypoxanthine, ba uric acid. Wannan sa neurologic munanan, da kuma uric acid ta cikin jini-kwakwalwa shãmaki auku ba. A etiology na halayya cuta ba a halin yanzu shigar. Masana kimiyya Kada ka yi shirki da shi tare da wani wuce haddi na hypoxanthine da uric acid. An yi imani da cewa hyperuricemia take kaiwa zuwa wani rashin dopamine. Kafa hypersensitivity D1-rabe located in striatal neurons. Wannan na iya haifar da ƙara ta'adi.

asibiti manifestations

Tun da kwayoyin cuta hade yadda da ciwo bayyana kanta Lesch - Nyhan. Alamun cutar da farko gani lalacewar da juyayi tsarin. Marasa lafiya damu magana convulsions, yayin da cramps ansu rubuce-rubucen wasu tsoka kungiyoyin. giperkinezy ma na kowa, bayyana twitching wata gabar jiki a sakamakon maras wata-wata karuwa a tsoka sautin. Yara da wannan ciwo suna lagging a baya a jiki da hankulansu ci gaban: maganarsu ne slurred, yiwu a marigayi fara tafiya. A tasiri a kan aiki na vagus jijiya take kaiwa zuwa ƙãra gag reflex: ciki emptying ya faru ba tare da wani dalili ba. Bugu da kari, da m inna da kuma farfadiya seizures. Cutar da ake dangantawa da rayuwa cuta, game da shi haifar da takamaiman bayyanar cututtuka. Per rana, yawanci, a manyan adadin fitsari, wanda aka haɗa tare da ƙishirwa m kuma na koda Pathology. Uric acid da aka tara a cikin earlobes, manyan ga samuwar ake kira tophi. A fitsari gano uric acid lu'ulu'u da ciwon wani orange launi. Bugu da ƙari, cikin tsari da hannu gidajen abinci, yawanci kananan. Da suka ci gaba kumburi - amosanin gabbai.

hali

Shin da rayuwa da kuma halaye da cutar Lesch - Nyhan? Syndrome tsanani canza hali na haƙuri saboda da CNS. The yaro zama sosai m, ya yanayi ne kullum canja. Abin kula ne musamman aukuwa na fitina da cewa na iya faruwa ba tare da dalili a kowane lokaci. Wadannan yara da hali ya kai wata cũta, cewa a halin yanzu amfani da cizon da scratches. An dauke da wani halayyar alama na Pathology. Ko rike da cikakken ji na ƙwarai to zafi ba ya hana marasa lafiya. Suna iya kuka fita a ciwo, amma ci gaba da raunata kai-cuta.

bincikowa da

A ganewar asali "ciwo Lesch - Nyhan" (photos na marasa lafiya an gabatar a cikin labarin) ta dogara ne a kan na asibiti jarrabawa da kuma musamman ƙarin bincike hanyoyin. Da shawara Pathology taimako uku babban alama. Kula da tsoka cuta convulsive yanayi, da hali ya kai cũta, kuma polyuria. A musamman rawar da aka buga da rauni kanta cewa ya kamata faɗakar da iyaye. Bayan gano da yaro ta bayyanar cututtuka aika ga fitsari da kuma jini analysis. Biochemistry zai ƙayyade matakin na uric acid a cikin wadannan nazarin halittu ruwaye. Haka ma wajibi ne don yin kwayoyin jarrabawa, wanda ya tabbatar da ganewar asali. Yana bada shawarar cewa a koda duban dan tayi don gane Pathology a gare su. Bayan tabbatar da cutar da yaro samun rajista zuwa neurologist da wani rheumatologist.

magani

Pharmacological da kuma wadanda ba pharmacological hanyoyi don taimakawa gyara ciwo Lesch - Nyhan. Jiyya ne da nufin rigakafin rikitarwa da kuma kyautata. Don rage hadarin samuwar koda gazawar dole rage uric acid matakin, wanda isa "Allopurinol". An shawarar yin amfani da "Diazepam" don kwantar da mãsu haƙuri kuma kawar da yunkurin haifar da lalacewar da kanta. Zaka kuma iya karɓar sauran sedatives. Baya ga bukatar tabbatar da iko da hali. Lokacin da m harin iya sanya "Risperidone". Bugu da ƙari kuma, shi ya kamata ya kawar da stressful yanayi. Wannan zai taimaka wa haƙuri daidaita da wa ta yanayi da kuma shiga cikin kusa lamba tare da sauran mutane. Support ga iyalai ne mai muhimmanci factor cewa zai taimaka wajen gyara hali. shawarar diapering ko taushi safar hannu kare daga kai-cuta. Mun sau da yawa koma ga kau da hakora, domin ya hana cizon. A lokacin, ci gaban magani, kamar Dentistry, damar yin amfani da musamman faranti, wanda aka sanya a kan hakora, ba tare da haddasa rashin jin daɗi ga mãsu haƙuri.

rikitarwa

Kamar mafi yawan pathologies, akwai rikitarwa, kuma cuta Lesch - Nyhan. A ciwo iya haifar da sakamakon dangantaka da jari na uric acid da kuma hypoxanthine. Wadannan cuta rage rayuwa da kuma hana al'ada daidaita da wa al'umma. Daga bayyana cuta - amosanin gabbai da kuma nephrolithiasis.

Hadin gwiwa da kumburi da ake dangantawa da magance na uric acid. Cluster lu'ulu'u yana tareda žata effects a kan guringuntsi nama da kuma ta muhalli. Yawancin lokaci rinjayar da gidajen abinci na ƙafafunsa da hannuwanku. A filin na kumburi bayyana soreness da redness. Pain ciwo qara da motsi.

Nephrolithiasis (koda duwatsu ko) na iya haifar da irin wannan rikitarwa kamar yadda pyelonephritis. A kumburi tsari ya shafi cikin koda kafafuwa. Kamuwa za a iya yada ko hematogenous urinogennym kuma ta dũkan nama da kuma interstitium. Lokacin da za a kullum mataki na kumburi jawo komowar matakai sclerosis. cuta ci gaban take kaiwa ga samuwar mai tsanani na koda insufficiency. Musamman m ne sauyawa daga tsarin abubuwa na connective nama da koda, shi ne mafita infringed ta aiki - da kasafi da ba dole ba jiki abubuwa.

Wadannan su ne siffofin da Pathology Lesch - Nyhan. Syndrome ne gaba daya m. Hanyoyin kwantar da hankali da nufin rage asibiti cututtuka da kuma karfafawa jihar. Muhimmiyar rawa a wannan taka leda da haƙuri yanayi da rai yanayi.