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27 Cards in this Set
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- Back
- 3rd side (hint)
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WHAT IS THE PATHOGENESIS OF ADPKD?
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PKD1 and PKD2 mutations
Increased proliferation/apoptosis Susceptible to EGF=proliferate apical Na/K pump dislocation=fluid REQUIRES "SECOND HIT" |
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WHAT IS THE CLINICAL PRESENTATION OF ADPKD?
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"RENAL
Hypertension UTI kidney stones Low urine concentration Kidney failure hematuria (gross/micro) mechanical (larger kidney) -pain -acute -chronic -cyst rupture/bleed EXTRARENAL CNS -aneurysms -subarachnoid hemorrhage Cardiovascular -Hypertension -Mitral Valve Prolapse -LV hypertrophy Other: liver cysts, pancreatic cysts, hernias, colonic diverticuli, drooping eyelids, seminal vesical cysts" |
RENAL VS EXTRARENAL SYMPTOMS
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WHAT ARE THE RISK FACTORS FOR ADPKD???
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MALE, HYPERTENSION, RECURRENT INSULTS
Urinalysis is normal early Hematoruia>>progression BUN and creatinine can rise *anemia or polycythemia |
THERE'S THREE
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HOW WOULD YOU DIAGNOSE ADPKD
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*MRI of brain if family history, high risk jobs, headaches, peace
*Ultrasound -<30 family history+2 cysts -30-59 2 cysts in each kidney >60 4 cysts each kidney *no cysts after 30 you might have ADPKD2. CT Scan>look at liver MRI>early detection .5mm diam |
THERE'S CRITERIA BY AGES
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HOW WOULD YOU TREAT ADPKD?
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NO CURE/TREAT SYMPTOMS
-BP 130/80 ACEI/ARBS>>Ca blockers>>diuretics Avoid trauma find source of hematuria infection: pyelonephritis vs cyst infection Pain>analgesics avoid NSAIDS nephrotoxicity disabling pain:nephrectomy Acute pain: cyst rupture, UTI, stones |
TREAT THE SYMPTOMS?
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WHAT IS THE PATHOGENESIS OF ARCKD??? NAME THE GENES
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fusiform dilation of collecting duct
-cysts connected to collecting duct Gene: fibrocystin,polyducttint, PDHD1, abnormal C terminus |
GENE REMINDS YOU OF WHAT HAPPENS TO ANOTHER ORGAN
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WHAT'S THE CLINICAL PRESENTATION ARPKD
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"less severe:
-worderning renal failure -fibrosis, dilation, hyperplasia of bile duct>>>>>>>>portal hypertension |
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WHAT DIAGNOSTIC IMAGINE **** WOULD YOU DO TO DETECT ARPKD
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Ultrasound may detect it incidentally antenatally
used to evaluate renal insuffiicneicy, abdominal mass, portal hyperteension. CT and MRI |
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HOW WOULD YOU TREAT THIS?
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hypertension: ACE-I, Ca-blcoker, Beta blockers, diuretics.
UTI and vesicuureteral reflux renal oseodystrophy>measure PTH ---Ca and Vit D and PO4 binder Anemia=erythropoietin growth hormone b/c uremia dialysis and transplantation |
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WHAT FOUR FEATURES ARE IN NP AND MCKD??
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inherited
kidney failure large amounts urine bilateral cysts in medulla and medullary junction. |
REMEBER WHEN BEBO MADE FUN OF ROSA WHEN SHE WAS IN THE BATHROOM?
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WHAT'S THE CLNICAL PRESNENATION OF NEPHRONOPTHTHISIS??
WHAT ARE THE DIFFERENT TYPES? |
"CHILDHOOD (kidney failure teens)
EXTRARENAL INVOLVEMENT AUTOSOMAL RECESSIVE NPH1>>juvenile, 85%, nephrocystin NPH2>>infantile, inversin, <30mts & < 5yrs NPH3-adolescent, kidney failure 19 years Small kidneys Salt wasting growth retardation anemia polyuria progressive kidney failure |
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HOW DO YOU TREAT NPH?
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Dialysis and transplantation
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WHAT IS THE PATHOGENESIS OF MEDULLARY SPONGY KIDNEY DISEASE??
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"cystic dilation of terminal collecting duct in pericalyceal region of renal pyramid.
Small to large WOMEN>MEN 27 yrs= diagnosis" |
WHERE DO CYSTS FORM?
WHAT GENDER IS MOST AFFECTED AGE OF DIAGNOSIS |
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IS MEDULLARY SPONGEY DISAESE SYMPTOMATIC?
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"Asymptomatic
kidney failure RARE UTI, hematuria, stones" |
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DETECTION OF MEDULLARY SPONGY KIDNEY??
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"incidentally discovered for other reasons, like kidney steons, hematuria, UTI
excretary urography IV pyelography, ultrasound, CT scanning " |
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HOW WOULD YOU TREAT MEDULLARY SPONGY KIDNEY
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"treatment based on complications and symptoms.
GOOD PROGNOSIS" |
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WHAT IS THE CLINICAL PRESENTATION OF MCKD?
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"Autosomal Dominant
Early adulthood MCKD1 <<< MCKD2 more severe high serum creatinine Polyuria, polydipsia=renal insufficiency, hypertension, hyperuricemia, gout. |
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HOW WOULD YOU DIAGNOSE MCKD
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FAMILY history, clinical suspcision and ultrasoudn=diagnosis, renal biopsy, genetic tests for type 2.
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WOULD YOU DO GENETIC TESTING.
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HOW WOULD YOU TREAT MCKD?
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Treatment is supportive until failure b/w 20 and 60 yrs then transplant
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WHAT IS THE PATHOGENESIS OF TUBEROUS SCLEROSIS?
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"neurocutaneous
tubors deposited in skin, brain, kidneys, others Autosomal dominant ~tuberin and hamartin" |
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WHAT IS THE CLINICAL PRESENTATION OF TUBEROUS SCLEROSIS?
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"Seizure, mental retardation, adenoma sebecaeum.
Diagnosis at 7 years of age MAJOR CRITERIA AND MINOR CRITERIA IN BOOK RENAL SYMTOMS 1. Angiomyolipomas, bilteral>>big, pain, burst, hematuria 2. benign cysts, unilateral or bilateral, no sympotmos RAAS hypertension, CKD, renal cell carcinoma i srare. |
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HOW DO YOU DIAGNOSE TUBEROUS SCLEROSIS?
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"renal ultrasound or CT for diagnosis
monitor disease " |
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HOW DO YOU TREAT TUBEROUS SCLEROSIS
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resection of tumors TREAT THE SYMPTOMS monitor renal and blood pressure " |
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What is the pathogenesis of Von Hipple-lindau syndrome?
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"visceral cysts
benign tumors>>malignancy autosomal dominant TWO HIT HYPOTHESIS" |
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what are the clinical features of VHL??
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"hemangioblastomas of CNS and retina
pheochromocytomas cysts in kidney liver and pancreas CLEAR CELL RENAL CARCINOMA LOOK AT FAMILY HISTORY " |
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How would you diagnose VHL
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CT, MRI, US, GENETIC TESTING
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How do you treat VHL?
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"TREATMENT IS SURGICAL
LIFE EXPECTANCY OF 49 YEARS." |
what is the life expectancy?
san fran? |
