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41 Cards in this Set
- Front
- Back
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Describe Potter's sequence/syndrome.
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Oligohydramnios secondary to renal disease. Normally amniotic fluid is swallowed by the baby and return to the cavity by the fetal kidneys. But when there is primary congenital kidney problems like agenesis, you get a decrease in amnion.
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What do infants with Potter's syndrome die from?
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Pulmonary hypoplasia
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What does a baby with Potter's look like?
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Baby compression: low set ears, beak nose, bent extremities
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What is the most common congenital kidney disorder?
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Horseshoe kidney
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What is the most common cystic disease in children?
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Renal dysplasia
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If a baby is born with a unilateral agenesis, the incidence of what disease is increased later in life? Why?
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Focal segmental glomerulosclerosis, due to increased workload
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What are the problems associated with an ectopic kidney?
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Ureter and kidney location increases the chance of infection and obstruction. Kidney function is not otherwise effected.
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What does a kidney with renal dysplasia look like?
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Enlarged
Irregular Cystic |
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Who most often develops renal dysplasia?
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Children
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What is the consequence of bilateral renal dysplasia?
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Potter's syndrome/sequence
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Horseshoe kidneys are most often joined at the ______.
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Lower pole
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Turners syndrome has increased incidence of which congenital renal disorder?
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Horseshoe kidney
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What is the onset of AD and AR polycystic kidney disease?
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Autosomal dominant = adult onset
Autosomal recessive = childhood onset |
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Which polycystic kidney disease will develop berry aneurysms?
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Adult Autosomal dominant
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If a child survives ARPKD, when might they develop ESRD?
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1/3 by age 15
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Which PKD is associated with hepatic cysts and mitroal valve prolapse?
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Cysts will appear in both juvenile and adult forms, but mitral prolapse is ADPKD.
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Which PKD is associated with hepatic fibrosis leading to portal hypertension?
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ARPKD (juvenile)
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What percent of ADPKD will develop ESRD?
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50%
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What gene defects are associated with ADPKD? What is the most frequent defect? Which is the most severe?
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PKD1 - 85% - most severe
PKD2 Responsible for polycystin 1 and 2 formation. |
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What is the phenotypic change associated with polycystin 1/2 defects?
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Defects in cilia in the tubular epithelium
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How long is renal function maintained in ADPKD?
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Until 4th or 5th decade
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Describe the development of a cyst in PKD?
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1. Polycystin/fibrocystin defect
2. Cell-cell and cell-matrix defect 3. Altered tubular epithelium 4. Abnormal matrix, proliferation and fluid secretion |
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What are the effects of a renal cyst?
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Vascular damage
Interstital inflammation and fibrosis |
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What is the gene defect in ARPKD? What protein does it form?
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PKHD1 forming fibrocystin
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Why is a kidney transplant not curative for ARPKD?
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Due to congenital hepatic fibrosis and hepatic cysts.
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What is the most common cause of ESRD in children?
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Medullary cystic disease (nephronophthiasis)
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Where are the majority of cyst in medullary cystic disease complex (Nephronophthisis)?
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At the corticomedullary junction
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What is the cause of renal insufficiency in medullary cystic disease (Nephronophthisis)?
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Tubulointerstitial damage
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What are the extrarenal symptoms of medullary cystic disease (Nephronophthisis)?
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Ocular motor problems
Retinitis pigmentosa Liver fibrosis Cerebellar abnormality (PEds with CRF = polydipsia/polyuria+ EOM probs, Cerebellar abnorms, retinitis, fibrosis of liver) |
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What is the gene defect associated AD medullary cystic disease (Nephronophthisis)? What is the age of onset?
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MCKD 1 or 2
Onset in adolescence |
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What gene defects are associated with AR medullary cystic disease (Nephronophthisis)? What determines the age of onset?
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NPHP2
NPHP1 NPHP4 NPHP5 Onset determined by gene involved |
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Where do cysts develop in medullary sponge kidney?
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<5mm cysts in the papillae
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Where do the cysts originate from in medullary sponge kidney?
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From the collecting ducts in the papillae
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What percent of medullary sponge kidney is bilateral?
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75%
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When does medullary sponge kidney become symptomatic?
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at 30-60 y/o
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What is the presentation of medullary sponge kidney?
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Flank pain
Hematuria "Gravel" in urine |
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What percent of people over 50 will get acquired cystic kidney disease?
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>50%
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Where will cysts develop in acquired cystic kidney disease?
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age related: In the cortex
dialysis related: cortex and medullary cysts |
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What renal disease condition is likely with longterm dialysis?
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Acquired cystic kidney disease
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What percent of pts on longterm dialysis will develop acquired cystic kidney disease?
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>75%
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Which malignancy is increased in incidence with acquired cystic kidney disease?
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Renal cell carcinoma in 7%
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