Ciwon Lesch-Nyhan

Cutar Lesch-Nyhan cuta ce da ke faruwa ta cikin iyalai (waɗanda aka gada). Yana shafar yadda jiki ke ginawa da farfasa purines. Purines wani yanki ne na al'ada na jikin mutum wanda ke taimakawa ƙirƙirar tsarin halittar jiki. Hakanan ana samun su a cikin abinci daban-daban.

Cutar Lesch-Nyhan ta bazu ne a matsayin mai alaƙa da X, ko halayen da ke da alaƙa da jima'i. Yana faruwa galibi akan yara maza. Mutanen da ke da wannan ciwo suna ɓacewa ko kuma suna da ƙarancin enzyme da ake kira hypoxanthine guanine phosphoribosyltransferase (HPRT). Jiki yana buƙatar wannan abu don sake sarrafa purines. In ba tare da shi ba, haɓakar ƙaƙƙarfan uric acid a jiki.

Yawan uric acid na iya haifar da kumburi kamar gout a wasu mahaɗan. A wasu lokuta, duwatsun koda da na mafitsara suna tasowa.

Mutanen da ke tare da Lesch-Nyhan sun jinkirta haɓakar motar da ke biye da ƙungiyoyi masu haɗari da haɓaka ƙwarewa. Babban fasali na cutar Lesch-Nyhan shine halin halakar da kai, gami da taɓar yatsu da leɓɓa. Ba a san yadda cutar ke haifar da waɗannan matsalolin ba.

Zai yiwu akwai tarihin iyali na wannan yanayin.

Mai ba da sabis na kiwon lafiya zai yi gwajin jiki. Jarabawar na iya nuna:

• Refara ƙarfin tunani
• Spasticity (ciwon spasms)

Gwajin jini da na fitsari na iya nuna yawan sinadarin uric acid. Kwayar halittar fata na iya nuna matakan da suka ragu na enzyme na HPRT1.

Babu takamaiman magani don cutar Lesch-Nyhan. Magunguna don magance gout na iya rage matakan uric acid. Koyaya, magani baya inganta sakamakon tsarin juyayi (alal misali, samun ƙoshin lafiya da spasms).

Wasu alamun za a iya sauƙaƙe tare da waɗannan magunguna:

• Carbidopa / levodopa
• Diazepam
• Phenobarbital
• Haloperidol

Za'a iya rage cutar da kai ta cire hakora ko ta amfani da bakin kare mai ƙira wanda likitan haƙori ya tsara.

Kuna iya taimaka wa mutum da wannan ciwo ta amfani da rage damuwa da dabaru masu kyau.

Sakamakon na iya zama mara kyau. Mutanen da ke fama da wannan ciwo galibi suna buƙatar taimako na tafiya da zama. Yawancinsu suna buƙatar keken guragu.

Mai tsanani, rashin lafiyar ci gaba mai yiwuwa ne.

Kirawo mai ba ku sabis idan alamun wannan rashin lafiyar sun bayyana a cikin yaronku ko kuma idan akwai tarihin rashin lafiyar Lesch-Nyhan a cikin danginku.

An ba da shawarar yin shawarwari game da kwayar halitta don iyaye masu zuwa tare da tarihin iyali na cutar Lesch-Nyhan. Ana iya yin gwaji don ganin ko mace tana ɗauke da wannan ciwo.

Harris JC. Rashin lafiya na purine da pyrimidine metabolism. A cikin: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Littafin koyar da ilimin yara. 21st ed. Philadelphia, PA: Elsevier; 2020: babi 108.

Katz TC, Finn CT, Mai Siyarwa JM. Marasa lafiya tare da cututtukan kwayoyin halitta. A cikin: Stern TA, Freudenreich O, Smith FA, Fricchione GL, Rosenbaum JF, eds. Littafin Jagora na Babban Asibitin Massachusetts na Babban Asibitin Hauka. 7th ed. Philadelphia, PA: Elsevier; 2018: babi na 35.