Matenda a Recklinghausen amatchedwanso neurofibromatosis mtundu I.

Mawu akuti "neurofibromatosis" akuphatikizapo matenda angapo a majini omwe amakhudza kukula kwa ma cell a neuronal. Pali mitundu iwiri ya neurofibromatosis: mtundu I ndi mtundu II. Mitundu iwiriyi, komabe, imakhala ndi mawonekedwe ofanana ndipo imayamba chifukwa cha masinthidwe amitundu yosiyanasiyana.

Mtundu Woyamba wa neurofibromatosis ndi neurodermal dysplasia, kusakhazikika pakukula kwa minofu ya neuronal. Matendawa adafotokozedwa koyamba mu 1882 ndi Friederich Daniel Von Recklinghausen, chifukwa chake dzina lamakono la matendawa.

Kusintha kwa minyewa ya neuronal kumawoneka chifukwa chakukula kwa embryonic.

Type I neurofibromatosis ndiyo yofala kwambiri ya neurofibromatosis yomwe 90% ya milandu imakhala yamtundu wa I. Imakhalanso imodzi mwa matenda ofala kwambiri amtundu wa anthu omwe amachulukirachulukira (chiwerengero cha anthu pagulu linalake, panthawi yoperekedwa) okwana 1/ 3 kubadwa. Komanso, palibe kutsogola komwe kunadziwika pakati pa amuna ndi akazi. (000)

Matenda a Recklinghausen ndi matenda obadwa nawo omwe njira yopatsirana ndi autosomal. Kapena, zomwe zimakhudza chromosome yosagwirizana ndi kugonana komanso zomwe kupezeka kwa makope awiri a jini yosinthika ndikokwanira kuti mutuwo ukhale ndi matendawa. Matendawa ndi zotsatira za kusintha kwa jini ya NF1 yomwe ili pa chromosome 17q11.2.

Makhalidwe a matendawa amafotokozedwa motere: (2)

- mabatani amtundu wa "café-au-lait";

- optic gliomas (zotupa pamlingo wa mizu ya mitsempha ya ocular);

- Lish tinatake tozungulira (hematomas pigmenting iris wa maso);

- neurofibromas ya msana ndi zotumphukira mitsempha;

- kusokonezeka kwamanjenje ndi / kapena kuzindikira;

- scoliosis;

- zolakwika za nkhope;

- zotupa zowopsa za mitsempha ya m'chimake;

- pheochromocytoma (chotupa choopsa chomwe chili mu impso);

- zotupa za mafupa.

Matenda a Recklinghausen amakhudza khungu ndi chapakati ndi zotumphukira mantha dongosolo. Zizindikiro zoyambirira zomwe zimagwirizanitsidwa nthawi zambiri zimawonekera paubwana ndipo zimatha kukhudza khungu motere: (4)

- "café au lait" mawanga amtundu wapakhungu, makulidwe osiyanasiyana, mawonekedwe osiyanasiyana komanso omwe amapezeka pamlingo uliwonse wa thupi;

- makwinya omwe amakula pansi pa mikono ndi m'khwapa;

- kukula kwa zotupa mu zotumphukira mitsempha;

- kukula kwa zotupa mu netiweki yamanjenje.

Zizindikiro zina zimatha kukhala zazikulu za matendawa, monga:

- Lish nodule: kukula komwe kumakhudza maso;

- Pheochromocytoma: chotupa cha adrenal gland, pomwe khumi mwa zotupa izi ndi khansa;

- kukulitsa kwa chiwindi;

- glioma: chotupa cha minyewa yamaso.

Matendawa amakhudza kukula kwa mafupa kumaphatikizapo kumanga kwaufupi, kupunduka kwa mafupa, ndi scoliosis. (4)

Matenda a Recklinghausen ndi matenda obadwa nawo amtundu wa autosomal wamkulu. Zomwe zimakhudza chromosome yosagonana komanso zomwe kupezeka kwa makope awiri okha a jini yosinthika ndikokwanira kuti matendawa ayambe.

Matendawa amayamba chifukwa cha masinthidwe angapo a jini ya NF1, yomwe ili pa chromosome 17q11.2. Ndi amodzi mwa matenda omwe amapezeka modzidzimutsa pakati pa matenda onse amtundu wa anthu.

Odwala 50% okha omwe ali ndi jini yosinthika ya NF1 ali ndi mbiri yapabanja yakufalitsa matenda. Mbali ina ya odwala omwe akukhudzidwa amakhala ndi masinthidwe odzidzimutsa mu jini iyi.

Mawonetseredwe a matendawa amasiyana kwambiri kuchokera kwa munthu wina kupita kwa wina ndi gulu la zizindikiro zachipatala zomwe zimatha kukhala zovuta kwambiri mpaka zovuta kwambiri. (2)

Zomwe zimayambitsa matendawa ndi chibadwa.

Zowonadi, matendawa amafalikira ndi kusamutsa kwa jini yosinthika ya NF1 molingana ndi njira yayikulu ya autosomal.

Kusintha komwe kukufunsidwa kukukhudza jini yomwe ili pa chromosome yosagwirizana ndi kugonana. Kuonjezera apo, kukhalapo kwa makope awiri okha a jini yosinthika ndikokwanira kuti matendawa athe. M'lingaliro limeneli, munthu amene mmodzi wa makolo ake phenotype matenda ali ndi chiopsezo 50% kukhala ndi matenda yekha.

The matenda a matenda ndi choyamba kusiyana, makamaka pokhudzana ndi kukhalapo kwa zizindikiro zina khalidwe. Cholinga chachikulu cha dokotala ndikuchotsa zotheka zonse za matenda ena omwe ali nawo paziwonetsero zachipatala.

Matendawa, omwe zizindikiro zake zimafanana kwambiri ndi matenda a Recklinghausen, ndi awa:

- Leopard syndrome: matenda obadwa nawo omwe zizindikiro zake zimaphimbanso mawanga a bulauni pakhungu, malo okulirapo pakati pa maso, kuchepa kwa mitsempha ya m'mitsempha yamagazi, kutayika kwa makutu, kamangidwe kakang'ono ndi zolakwika mu zizindikiro zamagetsi zamtima;

- neurocutaneous melanoma: matenda obadwa nawo omwe amayambitsa kukula kwa maselo otupa muubongo ndi msana;

- schwannomatosis, matenda osowa omwe amayambitsa kukula kwa zotupa mu minofu yamanjenje;

- Watson's syndrome: matenda obadwa nawo omwe amatsogoleranso kukula kwa tinthu tating'onoting'ono ta Lish, kamangidwe kakang'ono, neurofibromas, mutu waukulu modabwitsa komanso kupindika kwa mtsempha wamagazi.

Mayeso owonjezera amatha kutsimikizira kapena ayi matendawo, makamaka nkhani ya MRI (Magnetic Resonance Imaging) kapena scanner. (4)

Pankhani ya matenda ovuta, chithandizo chake chiyenera kuperekedwa ku ziwalo zosiyanasiyana za thupi lomwe likukhudzidwa.

Mankhwala omwe amaperekedwa ali mwana ndi awa:

- kuunika kwa luso la kuphunzira;

- kuwunika zotheka hyperactivity;

- chithandizo cha scoliosis ndi zopunduka zina zodabwitsa.

Zotupa zimatha kuthandizidwa ndi: (4)

- laparoscopic kuchotsa zotupa za khansa;

- opaleshoni kuchotsa zotupa zomwe zimakhudza mitsempha;

- radiotherapy;

- chemotherapy.