Ukuqonda i-Thoracic Dystrophy
I-Jeune syndrome, eyaziwa nangokuthi i-stystrophy thoracic dystrophy, iyona ifomu ezuze ilifa lezinto ezinobunzima obuvelisa imilenze emfutshane, isifuba esincinci kunye neengxaki zeengso. Noko ke, ukubonakaliswa kwayo okuyinhloko, ukuphefumula ngokuphefumula ngenxa yentambo encinane. Kuqikelelwa ukuba ku-1 kwi-100,000 ukuya ku-30 000 kuzalwa kwaye kuchaphazela abantu bazo zonke iintlanga.
Iimpawu
Abantu abane-Jeune syndrome baneendlela ezifanayo:
- Isifuba esincinci, esincinci, esingaqhelekanga sinomlinganiselo wokuphucula umphunga
- Izandla ezimfutshane nemilenze xa kuthelekiswa ne-trunk kunye nesigxina esincinci (i-short-foot footprint )
- Izilonda zeentso ezingabangela ukuhluleka kwezintso
Ezinye iimpawu abantu abaneJune syndrome abanakho ukuba:
- Amathumbu amazinyo
- Ukuguqulwa kwama-retinal
- Iingxaki zesibindi
- Intliziyo kunye neengxaki zomjikelezo
Ngokuqhelekileyo, ubunzima bokuphefumula buvela ngexesha lokusana. Kwezinye iimeko, iingxaki zokuphefumula zizinzima kakhulu, kwaye ukungaqhelekanga kweentso okanye isistim sezintlu kungabangela.
Ukuxilongwa
I-syndrome ye-Jeune isoloko ifunyaniswa xa izalwa ngokusekelwe kwesifuba esifubeni kunye nexesha elincinci elincinci. Iintsholongwane ezichaphazelekayo ziya kuba neengcinezelo zokuphefumula. Amatyala aMilder angafunyanwa yi-x-ray esifubeni.
Unyango
Inxalenye ebalulekileyo yonyango lwempilo yomntu one-Jeune syndrome ikhusela kwaye ilapha izifo zokuphefumula.
Ngelishwa, ezininzi iintsana kunye nabantwana abane-syndrome ziyafa ngenxa yokuhluleka ukuphefumula okufakwe kwisifuba esincinci kunye nezifo zokuphefumula eziphindaphindiweyo.
Kwezinye iimeko, ukwandisa intambo yembambo kunye nokuhlinzwa ngokutsha kwesifuba uye waphumelela ekunciphiseni ukuphefumula okuphefumulayo. Olu hlobo lugqirha lukhuni kwaye lunobungozi kwaye lugcinwe kubantwana abanenkinga yokuphefumla.
Abantu abane-Jeune syndrome bangaphinda bavelise uxinzelelo lwegazi oluvela kwizifo zengqondo. Izintso zabo ekugqibeleni zingaphumeleli, eziphathwe yi- dialysis okanye i- kidney transplantation .
Abantu abaninzi abane-Jeune syndrome abasinda emntwaneni ekugqibeleni baqala ukuveliswa kwesifuba.
Ukululekwa ngeGenesis
I-syndrome ye-Jeune i- autosomal disorder . Oku kuthetha ukuba bobabini abazali kufuneka babe ngabathwali bemfuyo ephosakeleyo ukuze umntwana azuze i-syndrome. Ngaloo ndlela, ukuba abazali bazala umntwana ochaphazelekayo, oku kuthetha ukuba bobabini abathwali, kwaye umntwana ngamnye olandelayo abanalo ithuba lokufumana i-syndrome ngama-25%.
Imithombo
UKhen, H. (2004). I-thoracic dystrophy (i-Jeune syndrome). eMedicine.
Sarimurat N, Elçioğlu N, Tekant GT, et al. I-dystrophic ye-thoracic dysstrophy ye-Young Eur J Pediatr Surg 1998; 8: 100.
Ehlelwe nguRichard N. Fogoros, MD