Recurrence Of 2,8-dihydroxyadenine Crystalline Nephropathy nyob rau hauv Lub raum Hloov Cov Neeg Tau Txais: Daim Ntawv Qhia Txog Cov Ntaub Ntawv thiab Kev Tshuaj Xyuas Cov Ntawv

Abstract:Peb nyob ntawm no qhia txog rooj plaub ntawm araum hloov tus neeg mobnrog arov tshwm sim ntawm obstructive nephropathyuas tsis tau kuaj pom tias yog adeninephosphoribosyltransferase (APRT) tsis muaj peev xwmkom txog rau thaum kuaj noob tau txheeb pom tus kab mob homozygous variant peb xyoos tom qab hloov lub raum. Tom qab ntawd, tus neeg mob tau kho nrog allopurinol, thiab allograft ua haujlwm tau nce mus rau qhov qub. Tsis tas li ntawd, 20 kis ntawmAPRT tsis muaj peev xwmhauvcov neeg tau txais kev hloov lub raumkuj raug tshuaj xyuas. Peb vam tias rooj plaub nonce kev paub txog APRTdeficiency nyob rau hauv rov qab obstructive nephropathy tom qab transplantation, uas yog ib tug kho mob kab mob uas misdiagnosis los yog ncua kev kuaj mob yuav tsum tau zam.

Ntsiab lus:adenine phosphoribosyltransferase deficiency, 2,8-dihydroxyadenine, hloov raum, raum biopsy, graft poob

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Taw qhia

Adenine phosphoribosyltransferase (APRT) deficiency yog ib qho tsis tshua muaj autosomal recessive metabolic disorder ntawm adenine uas nquag saib xyuas los ntawm cov kws kho mob, vim tsis muaj cov kev kho mob tshwj xeeb thiab kuaj cov pov thawj (1). Recurrence ntawm tus kab mob nyob rau hauv lub raum hloov pauv tau yog ib tug underdiagnosed etiology ntawm graft dysfunction. Cov xwm txheej ntawm APRT tsis muaj peev xwm ua rau muaj kev ua haujlwm tsis zoo ntawm allograft tsis tshua muaj qhia. Peb tau ntsib ib rooj plaub ntawm kev rov ua dua ntawm obstructive allograft nephropathy uas tau kuaj pom tias yog homozygous APRT deficiency los ntawm kev tshuaj ntsuam caj ces peb xyoos tom qab hloov lub raum. Cov qib creatinine hauv cov ntshav tau nce ntxiv thaum lub sijhawm soj ntsuam xyuas, thiab ib qho allograft biopsy pom obstructive nephropathy los ntawm tubular crystal deposits. Cov qib creatinine hauv cov ntshav rov qab zoo li qub tom qab kho nrog allopurinol. Lwm qhov xwm txheej ntawm APRT tsis txaus hauv cov ntaub ntawv kuj raug tshuaj xyuas.

Case Report

Tus neeg mob peb tau ntsib muaj ob lub raum pob zeb thiab sab laug ureterolithiasis thaum muaj hnub nyoog 9 xyoos hauv xyoo 2003, thiab cov ntshav creatinine yog 200 μmol / L. Cov txiaj ntsig ntawm urinalysis tsis muaj. Nws tsis muaj qhov mob flank thiab tag nrho hematuria. Nws tau kuaj pom tias muaj obstructive nephropathy, thiab sab laug ureterolithotomy tau ua, tab sis cov pob zeb tsis raug xa mus rau kev tshuaj xyuas tshuaj. Nws cov qib creatinine hauv cov ntshav hloov pauv ntawm 200-300 μmol / L ntawm kev mus ntsib ib txwm thiab tom qab ntawd maj mam nce, nws thiaj li nce mus txog 1,400 μmol / L hauv xyoo 2010. Tom qab ntawd, kev saib xyuas hemodialysis tau pib thiab ua rau rau xyoo. Thaum lub Cuaj Hlis 2016, tus neeg mob tau txais ib qho khoom plig los ntawm ib tug txiv neej muaj hnub nyoog 45- xyoo pub dawb tom qab lub paj hlwb thiab lub plawv tuag (Tuam Tshoj hom III) thiab tag nrho cov txheej txheem ua raws li Cov Cai ntawm Kev Tshaj Tawm ntawm Istanbul. Thawj hyperoxaluria raug txiav tawm (kev kuaj tsis zoo ntawm AGXT, GRHPR, thiab DHDPSL cov noob hauv xyoo 2015). Ib qho allograft biopsy tau ua tam sim ntawd tom qab ntshav reperfusion, uas qhia cov tubular epithelial hlwb tsis muaj crystal deposition (Fig. 1A). Immunosuppressants suav nrog basiliximab ua induction thiab mycophenolate, tacrolimus, thiab steroid raws li kev saib xyuas. Nees nkaum hnub tom qab hloov pauv, cov ntshav creatinine tseem nyob ntawm 204 μmol / L, thiab cov ntshav uric acid nce mus txog 578 μmol / L. Tom qab ntawd tus neeg mob tau txais qhov thib ob allograft biopsy, uas qhia txog tubular epithelial cell raug mob nrog tawg crystalline deposition (Fig. 1B-D). Yog li, tus neeg mob tau txais allopurinol 100 mg ob zaug ib hnub los kho nws cov qib siab ntawm uric acid. Tom qab 6 lub hlis tom qab ua haujlwm, cov ntshav creatinine tau maj mam txo mus rau 120 μmol / L. Nws tsis muaj tsev neeg keeb kwm ntawm kev sib yuav ntawm cov kwv tij txheeb ze lossis kab mob raum.

Txij thaum Lub Ib Hlis 2019, allopurinol raug tshem tawm, vim tias qib uric acid tau txo qis mus rau 326 μmol / L thiab qib creatinine hauv cov ntshav mus rau 132 μmol / L. Rau lub hlis tom qab, txawm li cas los xij, allograft kev ua haujlwm tsis zoo dua, nrog rau cov ntshav creatinine qib ntawm 202 μmol / L. Cov txiaj ntsig histopathology tau nthuav tawm mob T cell-mediated rejection (hom IB) raws li 2017 Banff cov qauv, nyuaj los ntawm tubular epithelial cell raug mob thiab crystallization tsim nyob rau hauv lub lumen (Fig. 2). Tus neeg mob tau txais kev txhaj tshuaj methylprednisolone ntawm 500 mg / hnub rau 3 hnub thiab kev tiv thaiv tib neeg thymocyte immunoglobin ntawm 50 mg / hnub rau 5 hnub. Tus neeg mob raug tso tawm thaum cov ntshav creatinine txo qis rau 168 μmol / L. Kev soj ntsuam xyuas hauv chav kuaj tsis tu ncua tau pom tias qib creatinine hauv cov ntshav tau tswj hwm ntawm 180-190 μmol / L.

Ob lub hlis tom qab tawm hauv tsev kho mob, qib creatinine hauv cov ntshav tau nce mus rau 228 μmol / L, nrog rau qib uric acid dua ntawm 416 μmol / L. Qhov thib plaub lub raum allograft biopsy tsis pom qhov pom tseeb T cell-mediated rejection, tab sis tubular epithelial cell raug mob, nrog rau kev tsim siv lead ua nrog mob hlwb nyob ib ncig ntawm lub siv lead ua (Fig. 3). Tom qab ntawd kev tshuaj ntsuam genetic tsom xam thiab pom ib homozygous variant nrog tshem tawm ntawm phenylalanine li zoo li serine thiab ib tug insertion ntawm serine rau hauv cov amino acids 174 thiab 175; NM_ 000485(ntawm APRT gene): c.521_523delTCT (p.174_175 delFSinsS), txhais tau tias muaj cov kab mob tseem ceeb raws li American College of Medical Genetics thiab Genomics (ACMG) kev taw qhia. Tom qab ntawd tus neeg mob tau kho nrog allopurinol, 200 mg / hnub, thiab noj cov khoom noj uas muaj purine tsawg thiab ua kom muaj kua dej txaus. Nws lub raum ua haujlwm nws thiaj li txhim kho, nrog kev soj ntsuam cov ntshav creatinine qib ntawm 124 μmol / L thiab uric acid qib ntawm 297 μmol / L thaum Lub Xya Hli 2020.

Kev tshuaj xyuas cov ntaub ntawv

Nees nkaum kis ntawm APRT tsis muaj peev xwm nyob rau hauv cov neeg mob hloov lub raum tau raug txheeb xyuas hauv peb qhov kev tshawb fawb ntawm PubMed (2-18), suav nrog hauv Table. Cov ntsiab lus hauv qab no tau siv: "Adenine phosphotransferase deficiency" LOSSIS "APRT deficiency" LOSSIS "2,8-dihydroxyadenine" OR "2,8-DHA" ua ke nrog "hloov." Hnub tshawb fawb tshaj tawm yog txij lub Ib Hlis 1, 1974, txog rau Lub Xya Hli 1, 2020. Muaj 24 grafts tag nrho. Cov ntaub ntawv hais txog kev kho mob tshwm sim tsis muaj rau ib qho graft thiab yog urolithiasis nyob rau hauv tsib grafts, huab tso zis nyob rau hauv ib grafts, ib tug qeeb graft muaj nuj nqi nyob rau hauv cuaj grafts, mob graft dysfunction nyob rau hauv peb grafts, thiab ntev graft dysfunction nyob rau hauv tsib grafts. Cov txheej txheem kuaj mob yog pob zeb / siv lead ua tsom iav (3 rooj plaub); ib pob zeb / Crystal tsom xam thiab kev soj ntsuam enzyme (5 rooj plaub); kev ntsuam xyuas enzyme nkaus xwb (5 rooj plaub); ib pob zeb / siv lead ua tsom xam, kev tshuaj ntsuam enzyme, thiab tshuaj ntsuam gene (3 kis); kev tshuaj ntsuam gene (1 rooj plaub); thiab ib pob zeb / siv lead ua tsom xam thiab tshuaj ntsuam gene (1 rooj plaub). Cov ntsiab lus hais txog kev kho mob tshwj xeeb tsis muaj nyob rau hauv ib qho grafts thiab tsis muaj kev kho mob hauv tsib grafts; allopurinol, qis purine, thiab hydration hauv tsib grafts; allopurinol thiab qis purine hauv tsib grafts; allopurinol nyob rau hauv tsib grafts; febuxostat, qis purine, thiab hydration nyob rau hauv ib tug graft; thiab allopurinol thiab febuxostat nyob rau hauv ob grafts. Cov txiaj ntsig tsis muaj nyob rau hauv 1, graft poob hauv 11 (tsis muaj kev kho mob hauv 5 thiab kev kho mob hauv 6), thiab kev txhim kho lub raum hauv 12.

Kev sib tham

APRT deficiency yog ib qho tsis tshua muaj autosomal recessive hereditary kab mob ntawm purine metabolism tsis ua hauj lwm. Adenine feem ntau hloov mus rau adenine monophosphate los ntawm APRT tab sis yog