Kev tawm dag zog-vim lub raum mob qog nqaij hlav hauv Ib Tus Neeg Mob Hluas Nrog Kab Mob Leiomyomata-associated Renal Cell Carcinoma (HLRCC): Ib Daim Ntawv Qhia Txog
Mar 07, 2022
CISTANCHE yuav txhim kho rau lub raum/ raum mob
Keeb kwm
Kab mob leiomyomatosis cuam tshuam lub raumcell carcinoma (HLRCC) yog ib qho tsis tshua muaj autosomal dominant mob tshwm sim los ntawm germline hloov pauv ntawm cov noob encoding fumarate hydratase (FH) nrog tsuas yog 300 tsev neeg uas tau tshaj tawm thoob ntiaj teb txog tam sim no [1]. Cov neeg mob feem ntau tshwm sim thaum lub hnub nyoog nruab nrab ntawm 25 thiab lawv feem ntau tuaj nrog cutaneous leiomyomas (76-90 feem pua), uterine fibroids hauv cov poj niam cuam tshuam (80-90 feem pua) thiab tsis tshua muaj.lub raumcell carcinoma (15–20 feem pua) [1]. FH gene defect tau tshaj tawm tias yog lub hauv paus caj ces thiab qhia txog qhov tseem ceeb ntawm dermatologic thiab genetic diagnosis ntawm HLRCC kom tsim nyog kev kuaj mob qog noj ntshav thiab kev tawm tswv yim ntawm tus neeg mob thiab cov txheeb ze uas muaj kev pheej hmoo tuaj yeem tsim kho, tshwj xeeb tshaj yog rau kev kuaj mob ntxov. Ruptured HLRCC, tshwj xeeb tshaj yog raug ntxias los ntawm kev tawm dag zog, tsis tau tshaj tawm txog hnub no. Peb tshaj tawm ib rooj plaub ntawm HLRCC, kuaj pom ua ntej kev tshuaj ntsuam caj ces thiab tom qab ntawd nthuav tawm nrog kev tawm dag zog vim kev tawg ntawmlub raumcell carcinoma.
Ntsiab lus:Kev tawm dag zog, Leiomyoma, Raum cell carcinoma, raum, raum
Case nthuav qhia
Ib tug txiv neej muaj hnub nyoog 22-xyoo-laus tau nthuav tawm rau cov neeg raug mob uas mob plab sab xis sab xis uas tawm mus rau sab nraub qaum rau 4 hnub, cuam tshuam nrog kub taub hau thiab xeev siab. Yav tas los nws tau zoo. Cov tsos mob pib tom qab kev sib tham ntawm kev sib cuag tsis sib cuag nrog kev tawm dag zog vim nws tau koom nrog hauv kev ua haujlwm tsis muaj khoom siv. Nws tsis kam lees qhov mob haematuria lossis dhau los ntshav txhaws. Ntawm kev nthuav qhia, tus neeg mob tseem nyob ruaj khov hemodynamically nrog kev sib tw thiab tiv thaiv txoj cai lumbar thiab sab xis iliac fossa cheeb tsam. Tsis muaj qhov pom tseeb ntawm daim tawv nqaij qhia pom ntawm cov tawv nqaij leiomyomas pom. Cov keeb kwm ntxiv tau qhia tias tus neeg mob thawj-degree thiab thib ob-degree cov txheeb ze los ntawm nws niam nws txiv tau kuaj cov noob caj noob ces rau HLRCC 5 xyoo dhau los tom qab nws tus phauj tau pom tias muajlub raumcell carcinoma thaum muaj hnub nyoog 16. (Te neeg mob yog 17- xyoo ntawd.) Ua ntej kuaj caj ces, 3 tus neeg hauv tsev neeg tau tas sim neej nyob rau hauv lawv cov 20s vim tsis paub ua li cas, tab sis txhua tus muaj mob plab ua ntej lawv tuag. . Tus neeg mob tau qhia rau kev soj ntsuam niaj hnub nrog rau ib xyoosraummagnetic resonance imaging (MRI), tab sis nws tau defaulted rov qab vim yog tus kheej vim li cas.
CISTANCHE yuav txhim kho lub raum / raum kab mob
Ib qho kev ceev multiphasic xam tomography (CT) ntawm covlub raumua kom pom txoj cai rupturedlub raumqog nrog txoj cai lojlub raumsubcapsular thiab muaj txoj cai retroperitoneal hematoma (Fig. 1 thiab 2). Tsis muaj pov thawj ntawm uterine leiomyomas thiab metastasis nyob deb ntawm cov duab CT. Nws tau resuscitated tam sim ntawd thiab npaj rau kev phais. Peb tau ua qhov xwm txheej ceev txoj cai radical nephrectomy ntawm subcostal incision, thiab sau tseg intraoperatively, txoj cairaumtau loj hlob zuj zus vim subcapsular hematoma (Fig. 3). Vim ntom adhesion, lublub raumcapsule yuav tsum tau muab faib kom paub covlub raumhilar hlab ntsha rau kev nyab xeeb ligation. Oblub raumcov hlab ntsha thiab alub raumcov leeg tau ligated tiav nrog hemo-lock; Tom qab ntawd, lub ureter tau ligated thiab faib. Organized clots tau khiav tawm. Postoperatively, tus neeg mob zoo zoo. Histopathological kev ntsuam xyuas ntawm txoj cai resectedraumqhia tau hais tias ib tug qis ncej subcapsular qog nrog superficiallub raumcortex infiltration thiab capsular rupture nrog exophytic kev loj hlob. Nws tau tshaj tawm tias HLRCC cuam tshuam txoj cai tawglub raumcell carcinoma (pT4). Tus neeg mob tau zoo zoo, raug tso tawm hnub tom qab kev phais hnub 7, thiab yuav raug soj ntsuam ze tom qab.
Kev sib tham
Tsis raug moblub raumhemorrhage rau hauv subcapsular thiab perinephric qhov chaw tsis tshua muaj tshwj xeeb tshaj yog tias nws tshwm sim tom qab kev tawm dag zog. Tus mob no tseem hu ua Wunderlich's syndrome, uas tuaj yeem tshwm sim los ntawmlub raumneoplasms suav nrog HLRCC (61.2 feem pua), idiopathic ua (38 feem pua), kab mob vascular (17 feem pua), kab mob (2.4 feem pua), thiab lwm yam (12.7 feem pua) [2]. Kev nthuav qhia classic suav nrog Lenk's triad ntawm fank mob, plab plab thiab hypovolaemic shock. HLRCC yog ib qho mob tshwm sim los ntawm germline heterozygous kev hloov pauv hauv FH noob, ib qho enzyme uas yog ib feem ntawm lub voj voog tricarboxylic acid, uas ua rau kev hloov pauv ntawm fumarate rau malate. Qhov kev hloov pauv no ua rau muaj kev cuam tshuam ntawm substrate fumarate hauv qhov system. Lub tshuab uas FH ua raws li cov qog nqaij hlav qog tsis paub meej; Txawm li cas los xij, muaj cov kev xav uas hais tias hypoxia-induced metabolic txoj kev koom nrog oncogenesis [3]. Nws yog ib qho teeb meem tsis tshua muaj tshwm sim, cuam tshuam rau cov txiv neej thiab poj niam sib npaug tab sis tau tshaj tawm tias yuav tsum tau tshaj tawm vim nws qhov tsis tshua muaj thiab tsis muaj kev paub txog ntawm cov kws kho mob [4]. Tus neeg mob no thiab nws tsev neeg, txawm li cas los xij, tau kuaj pom tau zoo ua ntej tab sis hmoov tsis tau rov qab los thiab nthuav tawm nrog qhov teeb meem tsis tshua muaj tshwm sim.
HLRCC raug txheeb xyuas los ntawm peb yam tseem ceeb, xws li (a) ntau yam kab mob ntawm daim tawv nqaij, (b) ntau qhov pib ntawm lub tsev menyuam leiomyomas ntawm cov poj niam, thiab (c) daim ntawv pib ntxov ntawm hom 2 papillarylub raummob qog noj ntshav. Peb tus neeg mob belongs rau pab pawg neeg uas tsis muaj cutaneous manifestations, es tsis txhob muaj ib tuglub raumqog. Vim muaj kev pheej hmoo ntawm kev tsim ib qho kev txhoj puab heev ntawmlub raummob qog noj ntshav, kuaj kab mob ntxov ntxov los ntawm kev kwv yees FH hloov pauv pib thaum muaj hnub nyoog 16 txog 18 xyoo thiab hauv cov ntaub ntawv lees paub ntawm HLRCC, txhua xyooraumMRI tau pom zoo [4]. Txog hnub tim, tsis muaj cov cim qog nqaij hlav rau kev tshuaj xyuas ntawm HLRCC [4].
CISTANCHE yuav txhim kho lub raum / raum mob
Kev kho mob yuav tsum tau pib ua txoj kev cawm neeg txoj sia los ntawm kev muab cov kua dej resuscitation, hloov ntshav, thiab thim rov qab ntawm coagulopathy kom ntseeg tau tias lub cev ua haujlwm tau zoo. Rau cov neeg mob poob siab lossis los ntshav tsis tu ncua, kev kho tam sim yog yuav tsum tau ua los ntawm kev xaiv cov hlab ntsha embolization thiab / lossis kev tswj xyuas xws li nephrectomy [5]. Te ua ntej kev kho mob yuav ua tau aiming rau preservation ntawm functionallub raumparenchyma nyob rau hauv lub xub ntiag ntawm interventional radiological kws txawj. Nyob rau hauv sib piv rau embolization, phais raws li nyob rau hauv peb cov ntaub ntawv muaj qhov tseem ceeb kom zoo dua ntawm kev tso cai rau kev ntsuam xyuas pathologic rau ib tug meej kev kuaj mob.
Txawm hais tias muaj ntau qhov xwm txheej dhau los tau tshaj tawm txog tus kab mob tsis tshua muaj no, peb tus neeg mob qhov kev nthuav qhia tau pom tias muaj kev txhoj puab heev ntawmlub raummalignancy, ib qho kev tshwm sim tsawg dua ntawm HLRCC. Txawm hais tias nws tsis muaj metastasis nyob deb, lub hnub nyoog yau ntawm kev nthuav qhia thiab qhov teeb meem ntawm cov qog nqaij hlav yuav ua rau tsis zoo. Qhov no yog thawj qhov xwm txheej uas tau tshaj tawm los ntawm South East Asian cov pej xeem, thiab thawj zaug tau tshaj tawm cov ntaub ntawv ntawm HLRCC nrog kev tawm dag zog ua rau qog nqaij hlav.
Xaus
HLRCC yog ib hom kab mob uas tsis tshua muaj tshwm sim los ntawm genetic predisposedlub raummalignancy uas yuav tsum tau kuaj thaum ntxov thaum muaj kev tsis txaus ntseeg genealogy lossis pathognomonic soj ntsuam tshwm sim. Cov kws kho mob yuav tsum tau ceev faj txog kev tsim cov tshuaj ntsuam xyuas, tshuaj xyuas cov neeg hauv tsev neeg muaj kev pheej hmoo, thiab qhia rau kev soj ntsuam ze. Cov neeg mob yuav tsum paub txog nws cov teeb meem nrog rau qhov tshwm sim tom qab me ntsis tsis sib cuag nrog kev tawm dag zog.
