Professional Documents
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AUTOSOMAL DOMINANT / AD
Chromosome(s) ADPKD PKD1 - 16 (Polycystic Kidney Disease)PKD2 4 Tuberous Sclerosus 9,11,12,16 Von Hippel-Lindau Ds 3 Medullary Cystic Ds -
Autosomal Resistant / AR
ARPKD Medullary Cystic Ds Cystinosis Primary Hyperoxaluria Enzyme defect Sickle Cell Ds Chrom 11
ADPKD
Most common 1/500 1/1000 80%: detectable cysts at age < 30; bilateral Systemic Ds : Hepatic cysts F>M, ovarium, pancreas Colonic diverticula, hepatic fibrosis, Cardiac valve abnl MVP (palpitation, chest pain ) Intracranial Aneurisms Hernias umbilical, inguinal Renal concentrating defect / acidification defect Hypertension RAAS Episodes of microscopic / gross Hematuria Cyst infection / hemorrhage Flank pain, proteinuria Nephrolithiasis (20%) Citrate Adenoma, ESRD
ARPKD
1/10.000 1/50.000 Biliary disgenesis and Hepatic fibrosis Early in life RENAL Later in life more severe liver ds Hematuria, proteinuria Concentration defect Hypertension Portal hypertension
MULTICYSTIC KIDNEY
Abnormal Metanephric differentiation Misshapen irregular cysts Lack of callyces, renal pelvis Sporadic, congenital > familial Most common cause of abdominal mass in neonates 50 % Bilateral
MCD cont. Usually small kidneys, small medulllary cysts Dx by USG Histopath: BM~ thickened and wrinkled ? Autoimmune interstitial nephritis Extrarenal: retinal degeneration retinitis pigmentosa AR: liver w/ portal fibrosis, cns, bone
Tuberous Sclerosis, AD
Epilepsi, mental retardation, skin lesion, hamartomas in many organs Any age, neonatal to elderly Flank pain, back pain, hematuria, hypertension, retroperitoneal bleeding Renal angiomyolipomas, cysts Dx: CT: intracranial paraventricular calcifications, intrarenal angiomyolipomas Renal ds most common cause of death in patients age > 30
Von Hippel-Lindau Ds / AD
Childhood to old age CNS, Retinal hemangioblastomas, renal cysts, RCC, pancreas cysts, epididymal cysts, pheochromocytomas Usually multiple & bilateral renal cysts Renal failure is rare
Alports Syndrome /X
1/5000, M>F Microhematuria, later also proteinuria, hypertension Frequent sensorineural hearing loss, Ocular abnormalities, anterior lenticonus, perimacular pigment changes Leiomyomatosis, genital, oesophageal, upper GI Progressive loss of renal function Path: Irreg thinning, thickening, lamellation of GBM Alport gene, mutations: type IV Collagen, COL 45 Missing in GBM: Goodpasteurs Ag: COL 43 (not on X-chrom) Post transplant: unusual anti GBM Ds
Congenital disorders
Obstruction and hydronephrosis,
ureteropelvic junction, posterior urethral valve, prune-belly syndrome, nonobstructive hn
Reflux nephropathy,
obstruction, neurogenic bladder congenital defect ureterovesical junction frequent UTI, hypertension, renal scarring, renal insufficiency
Nephrotic Syndrome
congenital infections, syphilis, toxoplasma, CMV Nail-patelle syndrome, AR Finnish type