Thawj Hyperoxaluria: Tus Neeg Laus Nephrologist's Point Of View

TSAB NTAWVHauv cov neeg laus,thawj hyperoxaluria(PH) tsis yog ib txwm muaj qhov pom tseeb zoo li hauv cov menyuam yaus, ua rau ncua sijhawm lossis tseem tsis tau kuaj mob. Thaum kuaj pom hauv cov neeg laus,PHfeem ntau yog nce zuj zus ntawm tus nqi qis dua thiab kev tsom mus rau kev tiv thaiv ntawm lub raum pob zeb ntau npaum li nws nyob ntawm kev khaws cia ntawm lub raum ua haujlwm. Qhov kev nthuav qhia tragic tshaj plaws yog thaum kuaj tau tom qab thawj qhov tsis ua haujlwm ntawm lub raum graft rau kev kho mob yav dhau los tsis paub.mob raum. Pob zeb rov tshwm sim,nephrocalcinosisthiab cov yam ntxwv ntawm cov kab mob oxalosis tuaj yeem ua txhua yam nthuav tawm. Rau cov laj thawj no, kev txiav txim siab yuav tsum tau muab rau kev tshuaj ntsuam xyuas rau qhov tsis tshua muaj mob, siv cov tshuaj biochemical thiab / lossis caj ces, tab sis ceev faj kom tsis suav nrog kev kuaj mob sib txawv. Xws li kev siv zog yuav tsum tau synchronized nrog rau kev kuaj mob rau lwm yamtsawg kab mob raum. 

Ntsiab lus: kev nthuav qhia kho mob, kuaj mob tsawg,lub raum pob zeb, thawj tsis ua haujlwm, kuaj xyuas kab mob tsawg

NYEM QHOV NO kom tau txais tshuaj ntsuab CISTANCHE FOR KIDNEY FUNCTION

Thawj hyperoxaluria(PH) thaum kuaj pom hauv cov menyuam yaus feem ntau ua rau muaj qhov tshwm sim hnyav, tshwj xeeb tshaj yog tias kuaj pom hauv cov menyuam yaus, thiab feem ntau ua raukab mob raum kawg(ESRD) [1]. Hloov pauv, hauv cov neeg laus feem ntau nrog PH, kev tsom mus rau kev tiv thaiv cov pob zeb rov tshwm sim tsawg kawg yog ntau npaum li kev khaws cia raum ua haujlwm, tshwj xeeb tshaj yog nyob rau hauv PH hom 2 thiab 3 [2, 3]. Txoj kev loj hlob ntawm tus kab mob no qeeb qeeb hauv cov neeg mob uas kuaj pom thaum muaj hnub nyoog laus dua piv nrog rau daim ntawv loj me me [26], tab sis hmoov tsis zoo, qhov no tuaj yeem ua rau txo qis ntawm kev ceev rau kev kho mob, vim qhov xwm txheej tsis pom tias yog 'kev phom sij rau lub neej'. Yog li, qhov tseem ceeb hauv cov neeg laus muaj kev txhawj xeeb txog kev kuaj mob cov neeg mob nrog PH uas yuav tsis tau txais kev kuaj mob.

SCREENING THIAB KEV KAWM NTAWV KEV PAB CUAM HAUV CHAW UA HAUJ LWM

Clinical clues nyob rau hauv cov neeg laus Hom kev nthuav qhia nyob rau hauv cov neeg laus yog ntau varied nyob rau hauv cov nqe lus ntawm cov tsos mob, lub sij hawm thiab qhov hnyav piv rau cov me nyuam, yog li cov tswv yim kuaj mob yuav tsum tau coj mus rau hauv tus account qhov no. Nws yog ib qho tseem ceeb uas yuav tsum nco ntsoov tias PH tuaj yeem kuaj tau txhua lub hnub nyoog, txawm tias cov neeg laus, tab sis ntau zaus, keeb kwm ntawm pob zeb hauv lub neej ua ntej (lossis txawm tias thaum yau) tuaj yeem raug rov qab los. PH3, tshwj xeeb, tej zaum yuav plam; Piv txwv li PH3 tau kuaj pom nyob rau hauv ib tug txiv neej muaj hnub nyoog 78- xyoo tom qab ib tug tsis yog pob zeb nephrectomy [4]. Nov yog qee hom kev nthuav qhia hauv cov neeg laus:

• Kev ua haujlwm tsis zoo ntawm lub raum hloov pauv - hmoov tsis zoo, qhov no tseem yog hom kev kuaj mob thiab muaj ntau cov ntaub ntawv qhia [5, 6], tag nrho cov uas tau taw qhia tias tus neeg tau txais kev kuaj mob tsis muaj kev kuaj mob rau ESRD tab sis muaj keeb kwm ntawm Lub raum pob zeb thiab / lossis nephrocalcinosis yuav tsum muaj kev ua haujlwm rau thawj hyperoxaluria ua ntej tau teev tseg rau kev hloov lub raum.

• Calcium oxalate pob zeb uas muaj kab mob raum mus ntev (CKD)—qhov no yog ib qho kev nthuav qhia tshaj plaws, tshwj xeeb tshaj yog nyob rau hauv cov neeg mob uas muaj bland urinary sediment. Sib nrug los ntawm kev xav txog kev raug mob raum vim yog mob pob zeb tshwm sim, nephrologists yuav tsis xav txog tam sim ntawd kev sib txuas ntawm keeb kwm ntawm cov kab mob pob zeb (qee zaum nyob rau yav dhau los) thiab tsis tu ncua uas tsis yog-proteinuric CKD. Cov neeg mob no yuav tsum raug xa mus rau lub chaw kho mob tshwj xeeb hauv metabolic (yog tias muaj) lossis lub chaw tshwj xeeb rau kev ua haujlwm, raws li tus kab mob Dent yuav tsum tau txiav txim siab. Hauv ntau lub chaw, qhov no tuaj yeem ua rau lub raum biopsy kom tau txais kev kuaj mob histological thiab qhov no yuav qhia cov yam ntxwv ntawm oxalosis [7]. Cov no suav nrog calcium oxalate crystals, feem ntau zoo siab rau hauv lub teeb polarized, thiab qee zaum cov yam ntxwv ntawm qhov mob hnyav tsis xav tau nyob rau hauv cov neeg mob uas muaj cov urinary sediment. Peb xav txhawb kom muaj kev txiav txim siab ntawm lub raum biopsy hauv cov xwm txheej no.

• Unexplained non-proteinuric CKDlos yog nephrocalcinosis - qee zaum keeb kwm ntawm pob zeb yog nyob rau yav dhau los nyob deb lossis tsis tag, lossis tsis tau pom los ntawm tus neeg mob. Ib zaug ntxiv, nyob rau hauv ntau lub chaw, qhov no yuav ua rau lub raum biopsy uas yuav tsum tau muab cov lus qhia rau kev kuaj mob [8]. Txawm tias muaj ib qho calcium oxalate crystal nyob rau hauv lub raum cov ntaub so ntswg ntawm lub teeb microscopy yuav tsum tau txiav txim siab txawv txav thiab yuav tsum tau soj ntsuam ntxiv. Tsis tshua muaj, cov yam ntxwv ntawm cov kab mob oxalosis tuaj yeem yog qhov tshwm sim hauv cov neeg laus, piv txwv li paraplegia [9] lossis cardiomyopathy (txawm hais tias qhov no yog PH2) [10].

• Tsev neeg keeb kwm—vim thawj hyperoxalurias yog autosomal recessive, los ntawm nws tus kheej, tsev neeg keeb kwm ntawm lub raum pob zeb tsis tshua muaj txiaj ntsig rau kev kuaj mob. Qhov tshwj xeeb suav nrog kev tshuaj xyuas cascade tom qab paub qhov teeb meem hauv tsev neeg lossis yog tias muaj kev sib koom ua ke. • Txhua tus neeg mob uas muaj calcium oxalate pob zeb (tshwj xeeb tshaj yog cov calcium oxalate ntshiab) - qhov no yog qhov teeb meem ntau dua, vim tias feem ntau cov pob zeb hauv lub raum yog tsim los ntawm calcium oxalate thiab feem ntau ntawm cov no yuav tsis yog vim thawj hyperox aluria. Kev tsom xam pob zeb (txawm tias yog ib lub pob zeb keeb kwm) yuav qhia tau tias calcium oxalate monohydrate tsis muaj phosphate thiab cov ntxhia tsis sib xws hauv PH1, txawm tias muaj kev hloov pauv tau. Kev tsom xam stereomicroscopic ntawm qhov chaw thiab sab hauv ntawm cov pob zeb calcium oxalate muab txoj hauv kev muaj zog ntawm kev sib txawv ntawm PH1 thiab tsis yog caj ces hyperoxaluria [25]. Tab sis cov chaw zoo li no thiab kev txawj ntse tsis muaj nyob hauv ntau lub chaw thiab kev kuaj biochemical / caj ces feem ntau nrawm dua. Lub xub ntiag ntawm nephrocalcinosis nyob rau hauv lub pob zeb calcium oxalate yav dhau los yuav tsum tau tsa cov pob zeb uas tsis yog-idiopathic, xws li thawj hyperoxalurias ntawm txhua hom [11-13]. Nees nkaum-plaub-teev kev sim rau oxalate excretion tseem yog qhov tseem ceeb ntawm kev tshuaj ntsuam thiab yuav tsum tau ua rau txhua tus neeg mob uas muaj cov pob zeb calcium oxalate rov tshwm sim [14].

• Hyperoxaluria kuaj pom ntawm kev ua haujlwm niaj hnub ntawm tus neeg mob uas muaj cov pob zeb calcium oxalate - qhov no feem ntau yog tom qab kuaj nrog 24-h cov zis tso zis qhia pom muaj hyperoxaluria. Qhov no yog ib qho laj thawj tshaj plaws rau kev thov kev sim tshwj xeeb rau thawj hyperoxaluria thiab tau piav qhia ntau yam hauv qab no.

High-throughput kev tshuaj ntsuam

Kev tshuaj ntsuam xyuas puas tsim nyog los txheeb xyuas cov neeg laus nrog PH? Rau qhov tsis tshua muaj tshwm sim nrog ntau qhov kev nthuav qhia thiab feem ntau tshwm sim loj heev uas tam sim no tuaj yeem kho tau, nws ua rau kev txiav txim siab txog qhov kev tshuaj ntsuam dav dav hauv cov neeg mob uas muaj feem cuam tshuam. Cov kev xav tau yog siab dhau, siab rhiab heev, lub ntsiab lus meej ntawm cov neeg xaiv thiab kev xeem pheej yig thiab yooj yim-rau-ua. Tsis muaj ib qho kev sim uas ua tau raws li cov qauv no tab sis cov kev xaiv muaj xws li kuaj cov zis thiab tej zaum cov tshuaj ntsuam xyuas cov zis, txawm tias tom kawg tsis tau siv dav [15]. Tsis tas li ntawd, kev ntsuam xyuas yuav tsum suav nrog kev kuaj pom tsis yog ntawm PH1, tab sis kuj ntawm PH2 thiab PH3. Kev kuaj pom cov zis rau glycolate, glycerate thiab 4-hydroxy-2-oxoglutarate muaj qhov rhiab heev, tshwj xeeb tshaj yog rau PH2 thiab PH3 [16]. Yuav tsum muaj ib lub tswv yim los daws qhov ua tsis tau zoo thiab muab kev kuaj caj ces rau cov neeg uas kuaj pom qhov zoo. Tsis tas li ntawd, kev tshuaj xyuas rau cov mob hyperoxaluric yuav tsum tau ua ke nrog kev txheeb xyuas ntawm lwm cov kab mob tsis tshua muaj, txhawm rau tiv thaiv kev puas tsuaj rau lub cev mus ntev, xws li cov lus qhia hauv UK Rare Disease Strategy [24]. Qhov kev tshuaj ntsuam zoo li no tau muab tso rau hauv txoj hauv kev los tshawb xyuas CKD yam tsis tau piav qhia.

KEV PAB CUAM TSHUAJ TIV THAIV NTAWM HYPEROXALURIA hauv cov neeg laus

If the presentation suggests that an adult patient may have an underlying hyperoxaluric condition, the next step would usually be a 24-h urine collection for oxalate (sometimes oxalate: creatinine ratio on spot urine, although this would usually require a 24-h collection for confirmation). This may not be possible if a suspected patient is oliguric; in this case, plasma oxalate may be useful [17]. Even if hyperoxaluria is confirmed (approximately >400 μmol / 24 h), cov hauv qab no yuav tsum tau txiav txim siab:

Enteric hyperoxaluria Hauv cov neeg laus, qhov no yog qhov sib piv ntau dua li ntawm cov menyuam yaus thiab tseem ceeb rau kev kuaj mob, vim tias kev tswj hwm sib txawv [18]. Txawm hais tias qee qhov ua rau xws li kev phais plab lossis phais mob bariatric yog qhov pom tseeb, lwm yam ua rau tuaj yeem hloov maj mam, xws li malabsorption cuam tshuam nrog qhov tsis tau kuaj mob me me. Yav dhau los, thawj hyperoxaluria yog ib qho kev kuaj mob ntawm kev cais tawm tom qab txiav txim siab ntau yam ua rau enteric hyperoxaluria, tab sis nrog pheej yig cov tshuaj ntsuam genetic muaj nyob, nws yuav yooj yim dua kom tshem tawm thawj hyperoxaluria ua ntej.

Thawj hyperoxaluria hom 2 thiab 3 Hauv cov neeg laus, qhov hnyav ntawm phenotype ntawm cov hom PH no tuaj yeem ua rau ntau dua PH1 hauv qee kis [2]. Yog li ntawd, kev tshuaj ntsuam xyuas yuav tsum tau saib rau tag nrho cov no. Ib qho kev xaiv yog kev tshuaj ntsuam xyuas cov zis metabolite, uas thaum ua hauv chav kuaj tshwj xeeb tau zoo rau kev kuaj pom glycerate (rau PH2) thiab 4-hydroxy- 2-oxoglutarate thiab 3-dihydroxyglutarate (rau PH3) [ 19] ib.

Kev txwv thiab qhov tshwm sim ntawm kev kuaj caj ces

Kev ntsuam xyuas caj ces tsuas yog siv tau yog tias peb paub cov noob twg los saib. Muaj ntau tus neeg mob uas hu ua idiopathic hyper oxaluria uas muaj cov zis ntau oxalate excretion (feem ntau mus rau hauv qhov ntau ntawm cov txiaj ntsig pom hauv PH syndromes) tab sis tsis muaj kev ntsuam xyuas caj ces zoo thiab tsis muaj pov thawj pom tseeb ntawm enteric hyperoxaluria. Yog li lub luag haujlwm loj yuav nyob twj ywm rau kev ntsuas cov zis oxalate. Qhov cuam tshuam ntawm kev kuaj caj ces ntawm cov tsev neeg, tshwj xeeb tshaj yog tias muaj kev sib koom ua ke, kuj yuav tsum tau xav txog.

Tsis muaj lub luag haujlwm rau daim siab biopsy hauv kev kho mob

Ntau qhov kev hloov pauv tau piav qhia, tab sis nws yog qhov nyuaj rau kev kwv yees kev teb rau pyridoxine los ntawm caj ces ib leeg [20]. Lub siab biopsy yuav pab tau los ntawm kev muab cov ntaub ntawv hais txog AGXT enzyme kev ua haujlwm thiab tseem pab kom paub meej txog cov kab mob ntawm cov kev hloov pauv tshiab. Txawm li cas los xij, tau txais daim siab cov ntaub so ntswg yog qhov cuam tshuam loj heev, nrog rau kev pheej hmoo pom tseeb. Tsis tas li ntawd, cov qauv histological yuav tsum tau txais tshiab thiab thauj khov rau hauv lub chaw kuaj mob uas muaj peev xwm ua tau qhov kev ntsuam xyuas, tab sis muaj tsawg heev lub chaw soj nstuam muaj peev xwm muab cov kev pabcuam no. Yog li ntawd, daim siab biopsy tsis pom zoo hauv kev kho mob.

Kev kho mob xaiv

Kev tswj hwm ntawm cov neeg mob uas tsis tu ncua hyperoxaluria thiab kev pheej hmoo ntawm pob zeb tsim tau tso siab rau cov kua dej ntau thiab kev siv cov crystallization inhibitors xws li potassium alkali, uas yuav txo cov pob zeb, txawm hais tias tsis muaj kev sim rau PH cov neeg mob [17]. Raws li lub hauv paus ntawm oxalate feem ntau yog endogenous, kev noj zaub mov tsawg oxalate tsis muaj txiaj ntsig. Kev zam kom tsis txhob ntsev thiab ntim ntim, lossis siv cov tshuaj diuretics, yog qhov ua tau zoo los tiv thaiv calcium oxalate crystal tsim hauv nephron, uas tuaj yeem ua rau lub raum tsis zoo [21]. Ntau tus neeg mob tau kuaj pom thaum hluas mus txuas ntxiv mus rau cov neeg laus yam tsis muaj kev txhim kho ESRD. Cov neeg uas muaj cov lus teb zoo rau kev kho pyridoxine tuaj yeem ua rau cov zis oxalate tso tawm thiab tswj lub raum ua haujlwm zoo. Hauv lwm tus, oxalate excretion tseem nce siab, nrog rau kev pheej hmoo rau ob lub pob zeb / nephrocalcinosis thiab qhov tshwm sim mus rau ESRD. Kev tsim pob zeb rov tshwm sim tuaj yeem ua rau xav tau cov txheej txheem tshem tawm pob zeb.

Nrog rau qhov tshwm sim ntawm cov tshuaj oxalate-txo qis xws li cov neeg ua haujlwm uas inhibit hepatic oxalate-pathway enzymes xws li glycolate oxidase thiab lactate dehydrogenase [22, 23], tej zaum yuav muaj kev cuam tshuam rau lub sijhawm ntev rau kev ua haujlwm rau lub raum thiab pob zeb rov ua haujlwm, txawm tias cov ntaub ntawv tseem tab tom tos.

Cov lus xaus

Kev tshuaj xyuas cov tswv yim rau cov neeg laus laus uas xav tias PH tam sim no vam khom qhov ntsuas siab ntawm qhov tsis txaus ntseeg. Cov neeg uas muaj keeb kwm ntawm lub raum pob zeb los yog nephrocalcinosis thiab kev loj hlob ntawm CKD, los yog tsim ESRD ntawm kev nthuav qhia, yog xav tau kev ntsuam xyuas rau cov kab mob hauv lub raum, vim tias cov no feem ntau ua rau muaj kev pheej hmoo rau CKD. Qhov no tuaj yeem suav nrog kev tshawb fawb tso zis rau oxalate lossis lwm yam metabolites hauv txoj hauv kev endogenous oxalate, nrog rau kev soj ntsuam cov caj ces hauv cov neeg mob tsim nyog. Txawm hais tias tiam tom ntej yuav ua rau kev ntsuam xyuas caj ces pib lub tswv yim ntawm kev xaiv yav tom ntej, kev lees paub ntawm hyperoxaluria yog qhov tseem ceeb vim nws yuav tso cai rau kev kuaj mob tsis yog PH thiab muab txoj hauv kev los saib xyuas kev kho mob. Cov tswv yim rau noob caj noob ces yuav tsum synchronize nrog rau kev mob siab rau kev kuaj mob lwm yam ua rau lub raum pob zeb tsis tshua muaj kab mob los yog CKD.

REFERENCES

1. Cochat P, Rumsby G. Primary hyperoxaluria.N Engl J Med2013; 369: 649–658 

2. Garrelfs SF, Rumsby G, Peters-Sengers Hua al.Cov neeg mob nrogthawj hyperoxaluria hom 2 muaj qhov mob hnyav thiabyuav tsum tau ua tib zoo saib xyuas.Raum Int2019; 96: 1389–1399 

3. Martin-Higueras C, Garrelfs SF, Groothoff JWua al.Ib daim ntawv qhialos ntawm European Hyperoxaluria Consortium (OxalEurope)Kev sau npe rau ntau pawg ntawm cov neeg mob nrog thawj hyperoxaluriayam 3.Raum Int2021; 100: 621–635 

4. Richard E, Blouin JM, Harambat Jua al.Kev kuaj mob lig ntawm thawjhyperoxaluria hom III.Ann Clin Biochem2017; 54: 406– 411 

5. Rios JFN, Zuluaga M, Higuita LMSua al.Thawj hyperoxaluriakuaj mob tom qab hloov lub raum: qhia txog 2 tus neeg mobthiab kev tshuaj xyuas cov ntaub ntawv.J Bras Nefrol2017; 39: 462–466 6. Cai R, Lin M, Chen Zua al.Thawj hyperoxaluria kuaj pomtom qab hloov lub raum tsis ua hauj lwm: ib zaj lus qhia los ntawm 3cov ntaub ntawv xov xwm thiab kev tshuaj xyuas cov ntaub ntawv.BMC NPE2019; 20: 224 

7. Geraghty R, Wood K, Sayer JA. Calcium oxalate crystal depositionnyob rau hauv lub raum: kev txheeb xyuas, ua rau thiab qhov tshwm sim. Urolithiasis2020; 48: 377–384 

8. El-Reshaid K, Al-Bader D, Madda JP. Thawj hyperoxalurianyob rau hauv ib tug txiv neej laus: ib qho tsis tshua muaj ua rau mob raum kawgtseem yuav ua rau tuag taus yog tias misdiagnosed.Saudi J Raum DisTranspl2016; 27: 606–609

9. Dieudonné Y, Eprinchard L, Leon Eua al.Paraplegia raws li kev nthuav qhiathawj hyperoxaluria.CEN Case Rep2018; 7: 313–315

10. Schulze MR, Wachter R, Schmeisser Aua al.Restrictive cardiomyopathynyob rau hauv tus neeg mob nrog thawj hom hyperoxaluriaII.Clin Res Cardiol2006; 95: 235–240

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