I-Waardenburg syndrome

I-Waardenburg syndrome iyiqembu lezimo ezidluliselwe emindenini. Lesi sifo sihilela ukungezwa nesikhumba esiphaphathekile, izinwele, nombala wamehlo.

I-Waardenburg syndrome ivame ukutholwa njengefa lesici esivelele se-autosomal. Lokhu kusho ukuthi umzali oyedwa kuphela okufanele adlulise isakhi esingalungile ukuze ingane ithinteke.

Kunezinhlobo ezine eziyinhloko ze-Waardenburg syndrome. Okuvame kakhulu uhlobo I nohlobo II.

Uhlobo lwe-III (i-Klein-Waardenburg syndrome) nohlobo IV (i-Waardenburg-Shah syndrome) luyivelakancane.

Izinhlobo eziningi zalesi sifo zibangelwa ukukhubazeka kwezakhi zofuzo ezahlukahlukene. Iningi labantu abanalesi sifo linabazali abanalesi sifo, kepha izimpawu kumzali zingahluka kakhulu kulezo ezisenganeni.

Izimpawu zingafaka:

• I-Cleft lip (engavamile)
• Ukuqunjelwa
• Ubuthakathaka (okuvame kakhulu kusifo sohlobo II)
• Amehlo aluhlaza okotshani ngokweqile noma imibala yamehlo engafani (i-heterochromia)
• Isikhumba sombala onsundu, izinwele namehlo (i-albinism engaphelele)
• Kunzima ukuqondisa amalunga ngokuphelele
• Ukwehla okuncane okungenzeka ekusebenzeni kobuhlakani
• Amehlo asethwe kabanzi (ngohlobo I)
• Izinwele ezimhlophe noma izimpunga zangaphambi kwesikhathi zezinwele

Izinhlobo ezingandile zalesi sifo zingadala izinkinga ngezingalo noma ngamathumbu.

Ukuhlolwa kungafaka:

• I-audiometry
• Isikhathi sokuhamba kwamathumbu
• IColon biopsy
• Ukuhlolwa kofuzo

Akukho ukwelashwa okuqondile. Izimpawu zizophathwa lapho kudingeka. Ukudla okukhethekile nemithi yokugcina amathumbu enqunyiwe kunqunywa kulabo bantu abaqunjelwe. Ukuzwa kufanele kuhlolwe eduze.

Lapho izinkinga zokuzwa sezilungisiwe, abantu abaningi abanalesi sifo kufanele bakwazi ukuphila impilo ejwayelekile. Labo abanezinhlobo ezingavamile zesifo bangaba nezinye izinkinga.

Izinkinga zingafaka:

• Ukuqunjelwa okunzima ngokwanele ukuthi kudingeke ukuthi kukhishwe ingxenye yamathumbu amakhulu
• Ukulahlekelwa ukuzwa
• Izinkinga zokuzethemba, noma ezinye izinkinga ezihlobene nokubukeka
• Ukuncipha kokusebenza kwengqondo (kungenzeka, okungavamile)

Ukwelulekwa ngofuzo kungasiza uma unomlando womndeni we-Waardenburg syndrome futhi uhlela ukuba nezingane. Shayela umhlinzeki wakho wezokunakekelwa kwempilo ukuhlolwa kokuzwa uma wena noma ingane yakho unendlebe noma wehlise ukuzwa.

I-Klein-Waardenburg syndrome; Isifo se-Waardenburg-Shah

• Ibhuloho lasekhaleni elibanzi
• Inzwa yokuzwa

ICipriano SD, iZone JJ. Isifo se-Neurocutaneous. Ku: Callen JP, Jorizzo JL, Zone JJ, Piette WW, Rosenbach MA, Vleugels RA, eds. Izimpawu Zesikhumba Zesifo Esihlelekile. Umhlaka 5. IPhiladelphia, PA: Elsevier; 2017: isahluko 40.

IKliegman RM, iSt. Geme JW, iBlum NJ, i-Shah SS, iTasker RC, iWilson KM. Amaphutha ku-metabolism yama-amino acid. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahl. 103.

UMilunsky JM. Uhlobo lwe-Waardenburg syndrome I. Ukubuyekezwa kweGeneReviews. PMID: 20301703 www.ncbi.nlm.nih.gov/pubmed/20301703. Kubuyekezwe uMeyi 4, 2017. Kufinyelelwe ngoJulayi 31, 2019.