I-Achondroplasia

I-Achondroplasia ukuphazamiseka kokukhula kwamathambo okubangela uhlobo oluvame kakhulu lobufushane.

I-Achondroplasia ingenye yeqembu lezinkinga ezibizwa nge-chondrodystrophies, noma i-osteochondrodysplasias.

I-Achondroplasia ingahle izuzwe njengefa lesimo esivelele se-autosomal, okusho ukuthi uma ingane ithola ufuzo olungalungile kumzali oyedwa, ingane iyoba nalesi sifo. Uma umzali oyedwa ene-achondroplasia, usana lunethuba elingama-50% lokuzuza lesi sifo. Uma bobabili abazali benesimo, amathuba engane yokuthinteka akhuphuka aya kuma-75%.

Kodwa-ke, amacala amaningi avela njengokuguquka okuzenzakalelayo. Lokhu kusho ukuthi abazali ababili abangenayo i-achondroplasia bangabeletha ingane enaleso simo.

Ukubukeka okujwayelekile kwe-achondroplastic dwarfism kungabonakala lapho kuzalwa. Izimpawu zingafaka:

• Ukubukeka kwesandla okungavamile nesikhala esiphikelelayo phakathi kweminwe ende nendandatho
• Imilenze egobile
• Ukwehla kwethoni yemisipha
• Umehluko omkhulu kakhulu ngokungafani kosayizi wenhloko nomzimba
• Isiphongo esivelele (ukuqashwa kwangaphambili)
• Izingalo nemilenze kufinyeziwe (ikakhulukazi ingalo nethanga)
• Isiqu esifushane (esingaphansi kakhulu kokuphakama okumaphakathi komuntu wobudala obufanayo nobulili)
• Ukuncipha kwekholomu yomgogodla (i-spinal stenosis)
• Ama-curvature omgogodla abizwa nge-kyphosis ne-Lordosis

Ngesikhathi sokukhulelwa, i-ultrasound yangaphambi kokubeletha ingakhombisa uketshezi oluningi lwe-amniotic oluzungeze usana olungakazalwa.

Ukuhlolwa kosana ngemuva kokuzalwa kukhombisa ukwanda kwekhanda langaphambili nangasemuva. Kungaba nezimpawu ze-hydrocephalus ("amanzi ebuchosheni").

Ama-X-ray amathambo amade angaveza i-achondroplasia enganeni esanda kuzalwa.

Akukho ukwelashwa okuqondile kwe-achondroplasia. Ukungajwayelekile okuhlobene, kufaka phakathi i-spinal stenosis nokucindezelwa kwentambo yomgogodla, kufanele kuphathwe lapho kubangela izinkinga.

Abantu abane-achondroplasia abavamile ukufinyelela amamitha ayi-1.5 ukuphakama. Ubunhloli busebangeni elijwayelekile. Izinsana ezithola isakhi esingajwayelekile kubazali bobabili azivamile ukuhlala ngaphezu kwezinyanga ezimbalwa.

Izinkinga zempilo ezingakhula zibandakanya:

• Izinkinga zokuphefumula ezivela emoyeni omncane omncane nasengcindezelweni yendawo yobuchopho elawula ukuphefumula
• Izinkinga zamaphaphu ezivela ku-ribcage encane

Uma kunomlando womndeni we-achondroplasia futhi uhlela ukuba nezingane, ungakuthola kuwusizo ukukhuluma nomhlinzeki wakho wezokunakekelwa kwempilo.

Ukwelulekwa ngofuzo kungasiza kulabo abazoba ngabazali lapho omunye noma bobabili bene-achondroplasia. Kodwa-ke, ngoba i-achondroplasia ivame ukukhula ngokuzenzekelayo, ukuvimbela akwenzeki ngaso sonke isikhathi.

IHoover-Fong JE, Horton WA, Hecht JT. Ukuphazamiseka okubandakanya ama-transmembrane receptors. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 716.

Izinkinga zeKrakow D. FGFR3: i-thanatophoric dysplasia, i-achondroplasia, ne-hypochondroplasia. Ku: ICopel JA, D'Alton ME, uFeltovich H, et al, ama-eds. Ukufanekisa Okubelethayo: Ukuxilongwa kwe-Fetal and Care. Okwesibili. IPhiladelphia, PA: Elsevier; 2018: isahluko 50.