◐General Nephrology

Nephrocalcinosis

Electrolyte約 8 分鐘9 個章節

1.Definition#

  • Deposit of Ca-P or Ca-oxalate in the kidney parenchyma(多在medulla(因為是沉積在thin limbs, IMCD)見下述pathogenesis); <3% involve cortex; involve cortex者多有其他severe cortical diseases(like previous renal cortical necrosis in pregnancy or cGN)或是oxalosis(cortex+medulla) or renal allograft rejection(見-Renal echo:summary of renal parenchymal disease and D/D list)
    • 有些人定義是Ca-P deposit才算nephrocalcinosis而將Ca-oxalate deposit定義為oxalosis
    • 註:renal cortical necrosis in pregnancy多因為DIC and severe renal ischemia, 如massive hemorrhage or amniotic fluid embolism...

2.Classification#

  • Molecular or chemical:a measurable increase in intracellular Ca but is not visible microscopically nor by imaging
    • 多observed in overt hypercalcemia, usually reversible
  • Microscopic:noted by biopsy; could not be seen by image
    • precursor of macroscopic nephrocalcinosis
  • Macroscopic:could be noted by image
    • 可以unilateral/bilateral, focal/diffuse

3.Pathogenesis#

  • Caused by increased urine (Ca, P or oxalate)(不一定要hypercalcemia), 基本上也會有nephrolithiasis, 但不一定會有(機制不明), 反過來有nephrolithiasis者常常沒有nephrocalcinosis(回思臨床上那麼多人有renal stones, 但的確很少看到有人合併nephrocalcinosis...)
  • 一開始在inner medullary (papillary) interstitium in the BM of the thin limbs of the loop of Henle, and IMCD形成Ca-P crystals, 接著可破入tubular lumen成為Ca-oxalate crystal的nidus or 進入interstitium

4.Pathology#

  • Tubular, intracellular and interstitial basophilic calcifications-->可IFTA

5.S/S#

  • AKI/CKD or incidental findings by image
    • 所以長期組織病理即表現為慢性小管間質腎炎(cTIN)與間質纖維化/小管萎縮(IFTA)
  • 若有hypercalcemia可有高血鈣症狀; 有nephrolithiasis可以renal colic

6.Etiology(機制含:hypercalciuria, hyperphosphaturia, hyperoxalaturia, hypocitraturia, urine alkalosis)#

  • Overall
    • I:granulomatous inflammation
    • I:sarcoidosis, post-renal transplantation(tubulopathy(hyperphosphaturia), 也可以造成type I, II, IV RTA)
    • M:malignancy(Ca, tumor lysis)
    • M:diet/food/Vitamin C/oxalate↑, Vitamin D, iPTH↑, RTA type I, chronic hypokalemia(hypercalciuria), drugs(Ca, loop, fleet...)
    • C:Congenital hypothyroidism, Williams-Beuren syndrome, Dent's disease, Medullary sponge kidney
    • H:beta-thalassemia(unknown mechanism)
  • 分機制
  • Hypercalcemia + hypercalciuria(理論上大多高血鈣原因應該都會?)
    • Sarcoidosis and other granulomatous inflammation
      • 13% nephrocalcinosis
    • Malignancy(PTHrP 分泌或溶骨性轉移造成高血鈣→高尿鈣, 可致微觀腎鈣化;惟腫瘤病程常太快, 較少見到明顯的宏觀鈣化)
    • Vitamin D intoxication
      • CYP24A1突變(NEJM 2011; PMID 21675912):25-hydroxyvitamin D 24-hydroxylase功能喪失導致1,25(OH)2D降解障礙,引起高血鈣、高尿鈣與特發性嬰兒高血鈣/腎鈣質沉著症〔PMID 21675912〕
    • Milk alkali syndrome
    • Primary hyperparathyroidism
      • 20% nephrocalcinosis
    • Congenital diseases
      • Congenital hypothyroidism
        • 因為一般intact mitochondria可堆積Ca against concentration gradient in proximal or distal renal tubular cells; 但Congenital hypothyroidism沒辦法, 導致intracellular hypercalcemia-->nephrocalcinosis
      • Williams-Beuren syndrome
        • 機轉不是很明確, 但這些病人會higher SCa(雖然大多WNL)而導致hypercalciuria and infrequently results in nephrocalcinosis
          • 有些studies發現和1, 25 OH vitamin D↑, ↑vitamin D sensitivity and defective calcitonin synthesis/release有關
  • Ca normal + hypercalciuria
    • RTA type I
      • 因為metabolic acidosis-->1. bone放出Ca, P由kidney排出(抑制renal再吸收Ca and Mg(by ↓TRPV5 and ↓TRPM6)), 2.hypocitraturia(metabolic acidosis本身會使p. tubules再吸收Citrate↑); 此外urine alkalization-->nephrocalcinosis(60-80%)
        • Nephrocalcinosis tends to be uniform and distributed throughout the renal pyramids bilaterally
    • Chronic hypokalemia
      • 回思增加K intake-->↓Ca excretion(見Nephrology-CKD-Urinalysis and renal stones-12.Crystalluria-Renal stones(T-H protein生理上可↓crystal formation)-Chronic Tx-if Ca stone-diet)
    • Loop diuretics(高劑量, 長時間), Bartter syndrome
      • Bartter症候群(TAL鹽分重吸收缺陷)伴高尿鈣與常併發髓質腎鈣化〔PMID 33509356〕;KDIGO共識指引(Kidney Int 2017; PMID 28003083)強調Gitelman症候群(SLC12A3突變)特徵為低尿鈣且無腎鈣化,以此鑑別〔PMID 28003083〕
    • Medullary sponge kidney
      • Nonhereditary developmental disorder with ectasia and cystic dilation of the distal collecting ducts, 多bilateral, normal size kidney with medullary nephrocalcinosis, 可renal stones, 可type I/IV RTA
        • 機轉不明, 但有些是glial cell-derived neurotrophic factor (GDNF) gene出問題
      • Brenner(p1110):Small calculi form in the distal collecting tubules, probably because of stasis; The calcifications are small, round, and within the peak of the pyramid adjacent to the calyx, 所以也可以變成renal stone; 此擴張/stasis處也容易infection
      • 常伴隨 hypocitraturia + hypercalciuria + hyperoxaluria + hyperuricosuria
      • Echo好像看起來和一般的medullary nephrocalcinosis差不多
    • Many congenital diseases
      • 含beta-thalassemia(mechanism unknown)
  • Hyperphosphaturia
    • Post-renal transplantation(tubulopathy)
    • Tumor lysis syndrome
    • Fleet enema
    • Congenital
      • Dent's disease(also hypercalciuria, X linked recessive disease會Fanconi syndrome而secondary FSGS-->ESRD)
      • ...
  • Hyperoxaluria
    • Vitamin C intake↑, oxalate rich foods(建議intake< 40-50mg/d; ethylene glycol intoxication; triamterene可因為crystalluria(even stones; 常也含有一些calcium oxalate成分) and cast formation而ATN; methoxyflurane(全身麻醉劑, 代謝產物含oxalate and F-); gastric or jejunoileal bypass(or any disease/condition causing fat malabsorption like IBD, orlistat, bowel resection, small bowel disease, pancreatic insufficiency, cystic fibrosis...; 因為fatty acid會和Ca binding-->oxalate absorption↑); peanut, 菠菜, 甜菜, 香菜, 可可, 紅茶, 大黃, star fruit(楊桃, case report裡有吃一顆楊桃就AKI(即使baseline normal renal function), 尤其dehydration or 空腹吃者, AKI者不一定會回復因為會嚴重AIN))
      • Congenital
        • Primary oxalosis(increased synthesis of oxalate)
          • 90% nephrolithiasis, 50% nephrocalcinosis, 會ESRD(type I), 而當renal function↓時, 血中oxalate濃度會↑而沉積在其他地方(CNS, retina, CV, BV, bone...)
            • RNAi新藥: lumasiran(2020; 抑制glycolate oxidase, 用於PH1)、nedosiran(2023; 抑制LDH, PH1/PH2)可↓肝臟oxalate生成→↓尿中oxalate、腎結石/腎鈣化; 搭配hydration、pyridoxine(PH1若responsive)、citrate
              • ILLUMINATE-A (N Engl J Med 2021; PMID 33789010):Lumasiran 標靶抑制 GO 治療 PH1 顯著降低 24 小時尿草酸排泄量|尿草酸降低 65.4% vs 11.8%(p<0.001)〔PMID 33789010〕
              • PHYOX2 (Kidney Int 2023; PMID 36007597):Nedosiran 標靶抑制 LDH 治療 PH1/PH2 每月皮下注射顯著降低尿草酸|64.7% 患者尿草酸達正常或接近正常〔PMID 36007597〕
  • Post-injury healing process產生的鈣化
    • 如renal TB or post-papillary necrosis...

7.Lab#

  • CBC
    • 有時可以erythrocytosis因為nephrocalcinosis-induced regions of medullary hypoxia(==>EPO↑)
  • U/A:可因為stone而hematuria, pyuria, 不然多clear, 注意urine pH; UPCR<0.5
    • =cTIN的presentation...?
  • VBG, Cre, BUN, K, iPTH, Alb, Ca, P, 24hrs UCa, 24hrs UP, 24hrs Uoxalate, 24hrs Ucitrate
  • Image
    • X ray, CT, echo

8.Tx(和renal stones的治療類似)#

  • Tx of underlying diseases; if CKD, as CKD care
  • Hydration to keep U/O>2L/d
  • Diet control(見Nephrology-CKD-Urinalysis and renal stones-12.Crystalluria-Renal stones(T-H protein生理上可↓crystal formation)-Chronic Tx-if Ca stone-diet)
  • Thiazide if no hypercalcemia
  • Potassium citrate if UpH<7 and hypocitraturia

9.Prognosis#

  • Depends on underlying diseases
    • Primary hyperoxaluria, familial hypomagnesemic hypercalciuric nephrocalcinosis(FHHNC) and Dent's disease容易進展成ESRD
      • FHHNC為體染色體隱性遺傳(CLDN16/CLDN19突變致亨利氏環粗上升段Ca/Mg旁細胞重吸收缺陷),Godron世代(CJASN 2012; PMID 22422540):CLDN19突變者91%合併眼部異常且腎預後顯著較差〔PMID 22422540〕
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