Isifo sika-Recklinghausen sibizwa nangokuthi uhlobo lwe-neurofibromatosis I.

Igama elithi "neurofibromatosis" lihlanganisa izifo eziningi zofuzo ezithinta ukuthuthukiswa kwamangqamuzana ezicubu ze-neuronal. Kunezinhlobo ezimbili ze-neurofibromatosis: uhlobo I nohlobo II. Lezi zinhlobo ezimbili, nokho, zinezici ezifanayo futhi zibangelwa ukuguquka kwezakhi zofuzo ezahlukene.

I-Type I neurofibromatosis yi-neurodermal dysplasia, okungavamile ekuthuthukisweni kwezicubu ze-neuronal. Lesi sifo sachazwa okokuqala ngo-1882 nguFriederich Daniel Von Recklinghausen, yingakho igama lamanje lalesi sifo.

Izinguquko kuzicubu ze-neuronal zivela ekukhuleni kwe-embryonic.

I-Type I neurofibromatosis iwuhlobo olujwayeleke kakhulu lwe-neurofibromatosis enezimo ezingu-90% eziwuhlobo I. Futhi ingesinye sezifo zofuzo ezivame kakhulu zomuntu ezivame kakhulu (inani lezigameko emphakathini othile, ngesikhathi esinikeziwe) okufika ku-1/ 3 ukuzalwa. Ngaphezu kwalokho, akukho ukugqama okwaphawulwa phakathi kwabesilisa nabesifazane. (000)

Isifo sika-Recklinghausen isifo sofuzo lapho indlela yokudlulisela ibusa i-autosomal. Noma, okuthinta i-chromosome engeyona ezocansi futhi lapho ukuba khona kwekhophi eyodwa kuphela kwamabili ofuzo olushintshile kwanele ukuthi isihloko sithuthukise isifo. Lesi sifo siwumphumela wokushintshwa kofuzo lwe-NF1 olutholakala ku-chromosome 17q11.2.

Izimpawu zesifo zichazwa ngokuthi: (2)

- izinkinobho ezinemibala ethi “café-au-lait”;

i-optic gliomas (izimila ezingeni lezimpande ze-ocular nerve);

- Amaqhuqhuva e-Lish (ama-hematomas afaka umbala ku-iris yamehlo);

- neurofibromas yomgogodla kanye nezinzwa ze-peripheral;

- ukuphazamiseka kwengqondo kanye / noma kwengqondo;

- scoliosis;

- ukungahambi kahle kobuso;

- izimila ezimbi ze-nerve sheath;

pheochromocytoma (isimila esiyingozi esitholakala ezinso);

- izilonda zamathambo.

Isifo sika-Recklinghausen sithinta isikhumba kanye nesimiso sezinzwa esimaphakathi nese-peripheral. Izimpawu eziyinhloko ezihambisanayo ngokuvamile zivela ebuntwaneni futhi zingathinta isikhumba ngale ndlela elandelayo: (4)

– “café au lait” amabala esikhumba anombala, anobukhulu obuhlukene, izimo ezihlukene futhi angatholakala kunoma yiliphi izinga lomzimba;

– kuvela amabala ngaphansi kwezingalo nasemakhwapheni;

- ukuthuthukiswa kwama-tumor emithanjeni ye-peripheral;

- ukuthuthukiswa kwezimila kunethiwekhi yezinzwa.

Ezinye izimpawu nezimpawu zingaba semqoka kulesi sifo, lezi zihlanganisa:

- Amaqhuqhuva e-Lish: ukukhula okuthinta amehlo;

I-Pheochromocytoma: isimila se-adrenal gland, lapho amaphesenti ayishumi alezi zimila anomdlavuza;

- ukwanda kwesibindi;

- i-glioma: isimila se-optic nerve.

Umthelela walesi sifo ekuthuthukiseni amathambo uhlanganisa ukwakheka okufushane, ukukhubazeka kwamathambo, kanye ne-scoliosis. (4)

Isifo sika-Recklinghausen isifo sofuzo esitholakala ngofuzo sefomu elibusayo le-autosomal. Noma okuthinta i-chromosome engeyona ezocansi futhi ukuba khona kwekhophi eyodwa kuphela kwamakhophi amabili ofuzo oluguquliwe kwanele ekuthuthukisweni kwesifo.

Lesi sifo sibangelwa izinguquko eziningi esakhini sofuzo se-NF1, esitholakala ku-chromosome 17q11.2. Ingenye yezinguquko ezizenzakalelayo ezivame kakhulu kuzo zonke izifo zofuzo zabantu.

Ama-50% kuphela eziguli ezinofuzo oluguquliwe lwe-NF1 ezinomlando womndeni wokudluliswa kwezifo. Enye ingxenye yeziguli ezithintekayo inokuguquka okuzenzakalelayo kulolu fuzo.

Ukubonakaliswa kwalesi sifo kuyahlukahluka kakhulu kusuka kumuntu oyedwa kuya komunye ngephaneli yezibonakaliso zomtholampilo ezingasukela ezinkingeni ezincane kuye kwezinzima kakhulu. (2)

Izici eziyingozi zokuthuthukisa lesi sifo ziwufuzo.

Ngempela, lesi sifo sidluliselwa ngokudluliswa kwesakhi sofuzo se-NF1 esiguquliwe ngokuya ngemodi ebusayo ye-autosomal.

Kuphakathi kokuthi ukuguqulwa okukhulunywa ngakho kuthinta isakhi sofuzo esitholakala ku-chromosome engeyona ezocansi. Ngaphezu kwalokho, ukuba khona kwekhophi eyodwa kuphela kwamakhophi amabili ofuzo oluguquliwe kwanele ukuthi lesi sifo sithuthuke. Ngalo mqondo, umuntu omunye wabazali bakhe une-phenotype yesifo unengozi engu-50% yokuthuthukisa i-pathology ngokwakhe.

Ukuxilongwa kwesifo kuqala kokuhlukana, ikakhulukazi maqondana nokuba khona kwezimpawu ezithile zesici. Inhloso eyinhloko kadokotela ukukhipha wonke amathuba ezinye izifo ezihilelekile kulokhu kubonakaliswa kwemitholampilo.

Lezi zifo, izimpawu zazo ezifana ne-Recklinghausen's disease, zihlanganisa:

– Leopard syndrome: isifo sofuzo izimpawu zaso ziphinde zimboze izindawo ezinsundu esikhumbeni, indawo ekhulisiwe phakathi kwamehlo, ukuncipha komthambo wenhliziyo, ukungezwa, ukwakheka okuncane kanye nokungajwayelekile kwezimpawu zikagesi zenhliziyo;

- I-melanoma ye-neurocutaneous: isifo sofuzo esibangela ukuthuthukiswa kwamangqamuzana e-tumor ebuchosheni nomgogodla;

- i-schwannomatosis, isifo esingavamile esibangela ukuthuthukiswa kwezimila kuzicubu zezinzwa;

– I-Watson’s syndrome: isifo sofuzo esiholela nasekuthuthukisweni kwamaqhuqhuva ka-Lish, ukwakheka okuncane, i-neurofibromas, ikhanda elikhulu ngokungavamile kanye nokuncipha komthambo wamaphaphu.

Ukuhlola okwengeziwe bese kwenza kube nokwenzeka ukuba kuqinisekiswe noma cha isifo, lokhu ikakhulukazi kuyi-MRI (Magnetic Resonance Imaging) noma ngisho nesithwebuli. (4)

Esimweni sesifo esiyinkimbinkimbi, ukwelashwa kwaso kufanele kunikezwe izingxenye ezahlukene zomzimba othintekayo.

Ukwelashwa okunqunyelwe ebuntwaneni kuhlanganisa:

- ukuhlolwa kwamakhono okufunda;

- ukuhlolwa kokusebenza ngokweqile okungenzeka;

- ukwelashwa kwe-scoliosis nokunye ukukhubazeka okuphawulekayo.

Amathumba angelashwa ngalokhu: (4)

- ukususwa kwe-laparoscopic yezimila ezinomdlavuza;

- ukuhlinzwa ukususa izimila ezithinta izinzwa;

- radiotherapy;

- i-chemotherapy.