Albright syndrome. Syndrome Mc Kyung-Albright-Braitseva. Izimbangela, ukwelashwa

Syndrome Mc Kyung-Albright ukuthi ogama lakhe behlonipha odokotela ababili ovelele, owachaza ke ngaphezu kwesigamu eminyakeni eyikhulu edlule. Atshela zomphakathi mayelana izingane, iningi labo kwakungebona amantombazane. Abaningi babo kwadingeka onesiqu esifushane, round ubuso, intamo esifushane, IV esifushane futhi V metatarsal noma amathambo metacarpal abangu kwemisipha izinhlungu zibe, izinguquko amathambo, wephuza teething koqweqwe lwawo hypoplasia. Kwakunesidingo futhi engqondo retardation futhi izifo endocrine, uzwakalise ukuthomba esemncane ukopha kokuya esikhathini, ukuthuthukiswa amabele, ukukhula izinwele pubic futhi amabele, ukwanda nezinga lokukhula kwezingane kanye nezinguquko esikhumbeni.

Kwezokwelapha zanamuhla, inkulumo ethi "Albright syndrome" isetshenziswa iziguli ukuthi unawo wonke noma ezinye nje endocrine kanye isikhumba kahle kwezinso. Kukhona amacala lapho uphethwe setha ekuqaleni kuka ebuntwaneni. Nokho, ezimweni ejwayelekile, ubekwa ezinganeni 5-10 ubudala, esekelwe izimpawu, okuyizinto sici yalesi sifo. Ngokuvamile kuba ezingavamile futhi ngofuzo. It ayikaziwa njengoba etiology futhi pathogenesis yalesi sifo. Ake sibheke izimpawu ezikhungathekisayo zalesi sifo.

Ukwephulwa ohlelweni endocrine

Njalo nje amantombazane, nge Albright syndrome siyenzeka kom ukuthomba, okuyinto kubangelwa estrogens adedelwa igazi izinhlumba wesibeletho. Izinhlumba kungase kwandise ngemva ukwehla ngobukhulu emasontweni ambalwa noma izinsuku. Ngosizo izinqubo ultrasound nethuba ukubona futhi ukukala usayizi izimila. Sikwazi ukukhula izinhlumba ukuba ngempela usayizi esezingeni elifanele. Kwakukhona izimo, lapho lase likhule lafika ku usayizi golf ball, okungukuthi ezingaphezu kuka-50 mm ububanzi.

Wamabele nokwengezwa ukopha kokuya esikhathini kuyagcinwa kanye ukukhula izinhlumba. Uma le ntombazane iqala ukuya esikhathini ngaphambi kokuba kufike iminyaka 2, kuba uphawu lokuqala Albright syndrome. Nokho, ukuba khona okungajwayelekile esikhathini wesibeletho izinhlumba kungabonakala nasemkhakheni kokubili intsha kanye nabesifazane abadala. Lokhu konke akuvimbeli ukuthi abaningi banezingane eziphile kahle.

Lokwelapha izingane ezinezimo ukuthomba kom, kunzima ngempela futhi ukungasebenzi kahle. Ngisho uma simila lisuswe, kwakungase livele. Uma uthatha le progesterone lama-hormone lingase kumiswe osesikhathini, kodwa izinga okusheshayo ithambo ukuthuthukiswa kanye nokukhula awunciphi. lezinyathelo ezingenzeka emibi umsebenzi nezindlala adrenal. Ekwelapheni ukwakhiwa esetshenziselwa kokungenisa ivimbela i-estrogen zamagama.

umsebenzi yegilo

Amaphesenti angu-50 abantu Albright syndrome, abaphethwe iziyaluyalu indlala yegilo. Lokhu okuthiwa goiter, Izigaxana futhi izinhlumba. Kungase kube Ezimweni ezingavamile izinguquko ezicashile kwesakhiwo. Kulezi iziguli, ezingeni ezivezwa TSH pituitary liphansi, kodwa amazinga kwama-hormone egilo izimiso ezijwayelekile noma kancane ephakeme. Waphatha, ngayo nefunda ngayo incipha zamagama kwama-hormone egilo. It is kuboniswe ezimweni lapho ezingeni eliphezulu ngokwanele ukukhulula hormone.

uketshezi ngokweqile ozokusebenzisa

Lapho pituitary isifo uqala secrete esiningi ozokusebenzisa. Ezinganeni, okuyinto isifakwe le uphethwe njengoba Albright syndrome, acromegaly kwatholakala. Izinsizwa kwaqala ukuvela izici indawo ebusweni, landa ngokushesha lafinyelela izingalo nemilenze, bona lingalimala Arthritis. Ukwelashwa kwezingane nge izimpawu ezinjalo kuyehla kube ukususwa kuhlinzwa yesifunda pituitary nokusetshenziswa zokwenziwa i-hormone somatostatin analogs, ithiya ukukhiqizwa kwe ozokusebenzisa.

Okunye endocrine iziyaluyalu

Kukhona uketshezi ezingavamile futhi ngokweqile ukukhulisa adrenal. kuwukwephula okunjalo kungaholela ukukhuluphala umzimba nobuso, ukwanda isisindo somzimba, ukumisa ukukhula isikhumba fragility. Zonke lezi zimpawu ngokuthi Cushing Syndrome. Lapho ushintsho olunjalo ziyasuswa abathintekayo imithi adrenal noma ukuthatha ukuthi ukunciphisa synthesis cortisol.

Kwesinye isikhathi abantwana Albright syndrome, nasemkhakheni egazini liphansi kakhulu phosphorus ngenxa yokufelwa enkulu phosphate umchamo. Lesi sifo kungaba imbangela izinguquko ithambo elihlobene ne yamathambo. Njengoba imishanguzo phosphate temlomo na vitamin D ngaphezu.

Ukungasebenzi elihlobene ne isikhumba

On the isikhumba lapho bezalwa noma ngokushesha ngemva kwalokho bavele izindawo umbala "ikhofi ubisi". Bavame kakhulu senziwe sacrum, isiqu, imilenze, izibunu, isiphundu, isiphongo, ekhanda, ngemuva ekhanda. Bonke bangabangasokile futhi kuwuphawu lokuthi umntwana Albright syndrome. Izithombe lezi izindawo kungabonwa ngezansi.

Nakuba lesi sifo neurofibromatosis, futhi ube umbala indawo "ikhofi ubisi". Nokho, Albright syndrome libhekene izindawo ezinkudlwana zezinkulumo ezingafani, zingaphansi ngesibalo. Sinenkosi ububanzi kusuka 1 kuya ngamasentimitha ambalwa, ithinti ensundu. Faka umbala zonke esifanayo, okweqanda, basuke libhekene surface bushelelezi. On luhlolo histological ngokuvamile kwembula ukuthi epidermis engashintshwa e oyiyo, kodwa inani melanin ku keratinocytes sinyukile kancane.

ezindaweni eziqhelile zaleli lolu hlobo lungatholwa kubantu empeleni abaphile saka. Uma ungakhathazeki futhi ayibi, impatho akudingekile. Uma kukhona ukukhula okusheshayo, kukhona irregularly izindawo eliyindilinga, kutuswa ukuphenya kubo histologically. Bese isuswe surgically.

isiphetho

Ngakho, singasho ukuthi Albright syndrome libhekene ukuwohloka kwamathambo noma skull, khona isikhumba sombala izindawo, ukuthomba ekuseni. Nakuba zikhona izimo lapho kukhona izimpawu zokuqala ezimbili kuphela. Ngokuvamile, isici esiyinhloko lesi sifo ithambo izilonda (osteodysplasia). Nokho, le nqubo uyama uma nokuthomba. Ngo abadala, ithambo izinguquko kungukuthi ethuthuka. Ngokuvamile, bangabonwa futhi ukwelashwa okufanelekile, onalesi sifo yokwelapha yalesi sifo ngempela evumayo.