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This Concept Map, created with IHMC CmapTools, has information related to: inherited renal diseases, autosomal dominant polycystic kidney disease (ADPKD) genotypes ADPKD2 10% chrm 4g13, autosomal dominant polycystic kidney disease (ADPKD) genotypes ADPKD1 87-90% chrm 16p13.3 related to protein polycystin1-invlvd in matrix protein interaction, medullary cystic disease aka juvenile nephrolithiasis renal failure by 13 in recessv, medullary cystic disease aka juvenile nephrolithiasis Sx polydyspsia polyuria enuresis, non inherited PKD ???? medullary sponge kidney, medullary cystic disease aka juvenile nephrolithiasis renal failure by age 4y in dominantly inhertied dz, extra-renal manifestations are common eg intracranial aneurysms liver cysts 40-60% colon diverticula 80% aortic regurg 10% cysts in pancreas and ovaries hypernephroma, autosomal dominant polycystic kidney disease (ADPKD) PE urine may contain WBC, RBC, autosomal dominant polycystic kidney disease (ADPKD) Sx's flank pain 20-80% -from hmrrhg into cyst, pyelonephritis hematuria 50% renal cysts 100% renal adenomas 21% cyst calcification cmn diff to conc urine 80-100% dcrsd urinary citrate excretion 60% imprd renal acidification incrsd renin prodctn prsrvd EPO prodctn Sx's in HTN or renal insufficiency 40-50% HTN 60%, autosomal dominant polycystic kidney disease (ADPKD) ???? complications: UTI, perinephric abscess, infected renal cyst, hmrrhg into cyst, renal calculi, obstruction, autosomal dominant polycystic kidney disease (ADPKD) ???? ????, autosomal dominant polycystic kidney disease (ADPKD) Tx Tx Sx's: HTN,infxn, uremia. renal transplant, autosomal dominant polycystic kidney disease (ADPKD) PE extra-renal manifestations are common, medullary cystic disease aka juvenile nephrolithiasis prognosis poor ESRD develops, medullary cystic disease aka juvenile nephrolithiasis charac progressive renal failure cyst formation in med./cortico-medllry regions of kidney Dx'd with CT recessive in 85% mostly children&young adults., medullary cystic disease aka juvenile nephrolithiasis features small renal medullary cyst thickening & loss of defintn of tubular basement membrane not usu assctd w/ cysts in other organs (unlike ADPKD) hematuria rare poor urinry conc. renal Na wasting, medullary sponge kidney presentation dilated collecting ducts & tubules in >=1 renal papillae => sponge-like appearnc most: mild impairmnt of urinry conc and acidifctn 2ndry to tublr dysfnctn, systmc acidosis rare. - high fractnl excrtn of Na and hypercalciuria usu asymptomatic unless w/ nephrolithiasis by 20-30's. urinalysis, GFT usu nrml, autosomal dominant polycystic kidney disease (ADPKD) genotypes ADPKD3, autosomal dominant polycystic kidney disease (ADPKD) PE enlrgd, irrg, palpable kidneys, medullary sponge kidney Dx excretory IVP: dilated collctng tubles flower/grape pattern to renal papillae