Can you name the Renal/Endocrine pathology? by kmock

disease
mutation in the NPHS1 gene, which encodes neprhin proteins of the slit diaphragm. Massive proteinuria and hypoalbuminemia shortly after birth. Tx: transplant
type IV collagen defect that disrupts the glomerular filtration apparatus. x-linked recessive, associated with deafness. chronic nephritis. Tx: transplant
deficiency of amniotic fluid due to renal dysfunction or, more commonly, by premature rupture of membranes
excess amniotic fluid due to dysfunction of fetal swallowing.
WT1 mutation in metanephric mesenchyme which results in abnormal renal tubule development and tumor formation. triphasic histology. seen in children.
mutation in integral membrane protein fibrocystin which causes multiple renal cysts. can also affect the liver.
CYP21B mutation of 21-hydroxylase enzyme which converts progesterone to cortisol. deficiency of cortisol production leads to a lack of feedback and high ACTH, resulting in high and
arginosuccinate synthetase deficiency
deficiency of carbamoyl phosphate synthetase I
deficiency of N-acetylglutamate synthetase, a cofactor for carbamoyl phosphate synthetase I, hyperornithinemia results
deficiency of ornithine transcarbamoylase, an enzyme that converts carbamoyl phosphate and ornithine to citrulline.
lack of the enzyme arginosuccinate lyase
lack of the enzyme arginase. can result in progressive quadraplegia and mental retardation
HGPRT deficiency results in gout and self mutilating behaviors and involuntary movements.
deposits of uric acid due to increased levels in serum. Tx: allopurinol
mutation of polycystins results in multiple cyst formation in the kidneys
mutation that leads to deficient proton secretion by the alpha intercalated cells
dysfunction of the hydrogen ion/bicarbonate exchange at the proximal tubules
dysfunction of the KNa2Cl transporter in the ascending LOH. results in high levels of renin and aldosterone and hypokalemia, hypercalcemia
dysfunction of the Na/Cl transporter in the DCT results in salt-wasting and solute diuresis (like thiazide effect) causes hypochloremia, hypocalcemia
mutation of ENaC channel in distal tubule results in too much Na reabsorbed and too much K lost. causes hypertension and hypokalema. decreased renin and aldosterone

disease
benign tumor of the kidney thought to arise from intercalated cells. will result in large eosinophilic cells with a central stellate scar
benign renal tumor composed of vascular, fat and sm. muscle tissue. grow rapidly during pregnancy. triphasic histology
cancer arising from the renal tubular epithelium. risk factor: smoking. clear cell types come from proximal tubule epithelium. most are not detected before metastasis. presents wit
cancer of transitional cells in the urinary tract. presents with gross hematuria
can progress to pyelonephritis. can be caused by drugs, infections, etc. presents with urinary frequency, suprapubic pain, dysuria
kidney stones composed of calcium and phosphate. more common in males.
rapid loss of renal function. crescentic glomeruli, nephritic syndrome, can be caused by antibodies to GBM or immune complex deposition
autoimmune reaction to type iv collagen in the GBM. results in RPGN. effects kidneys and lungs. EMs will not reveal Abs but IF will reveal smooth deposition pattern
most common RPGN. granulomas are found in the lungs, C-ANCA test is used to IF and EM will be negative for antibodies in the GBM. skin rash can also occur
strep infection results in antibody deposition in the GBM little humps on the epithelial side of GBM will be seen
proteinuria, RBC casts, hematuria, hypertension, hypoalbuminemia. inflammation of the glomeruli. usually acute
causes glomerulonephritis with lumpy bumpy immunofluorescent staining
massive proteinuria and hypoalbuminemia, no hematuria, hyperlipidemia
caused by antibodies to podocyte anitgens. sometimes involve immune complex deposition due to infection, drugs, lupus. little to no inflammatory infiltrate. thickening of GBM
fusion of podocyte foot processes. seen in children, presents as nephrotic syndrome. histologically normal, response well to steroids (autoimmune?)
nephrotic syndrome secondary to heroin addiction, AIDS, etc. most common nephrotic syndrome of adults. not responsive to steroids. some glomeruli affected,
glycosylation of GBM components. starts as microalbuminemia. thickening of GBM. nodular version with Kimmelstein-Wilson bodies is also seen
hypersecretion of IgA results in deposition in glomerulus. can present with Henoch-Schoenlein purpura
can result from UTI progression. presents with pus in the tubules, fever, dysuria, frequency
rapid decline in kidney function (hours/days)
caused by ischemia in the kidney. dark brown casts result in the urine. most common cause of acute renal failure

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