11 Renal devo and congenital abnormalities

Question 0

GBM characteristics

Answer 0

Type IV collagen
Heparin sulfate causes negative charge
Water and positive proteins <70kDa permeable
Albumin is negative and nonpermeable

Question 1

Kidney anatomy

Answer 1

Cortex- Glomeruli, distal and proximal tubules
MEdulla- Loops of henle and collecting ducts
6 distal tubules per collecting cut- travles to duct of bellini

Question 2

Congenital kidney abnormalties

Answer 2

Aplasia, hypoplasia, dysplasia
ectopic kidneys
Fusion abnormalitis
Ureter duplication

Question 3

Horseshoe kidney

Answer 3

90% lower pole
Associated with turners syndrome
increased risk of stones

Question 4

Cystic kiddney diseases

Answer 4

Renal dysplasia
ARPKD (austosomal recessive polycystick KD)
ADPKD
Medullary sponge disease
Acquired cystic kidney diisease

Question 5

Renal dysplasia

Answer 5

cystic kidney disease
detected by ultrasound or palpable mass
single or bilateral

Question 6

Autosomal recessive polycystic kidney disease

Answer 6

• 1:20k Live births
• PKHD1 gene on chromosome 6p21
• ultrasound diagnosis
• largehyperechoic kidneys
• oligohydramnios/decreased urine in bladder
• serious cases 30-50% mortal
• Assocaited with maternal oligohydramnios
• potters facies
• pulmonary hypoplasia

Question 7

APKD exrarenal manifestations

Answer 7

hepatic fibrosis
cholangitis
portal hypertension

Question 8

ARPKD morpho/histo

Answer 8

Smooth kidney with small cysts
Cyindrical cysts extending radially through cortex
Cyst lined by cuboidal epithelium
Normal glomeruli

Question 9

ADPKD

Answer 9

1:400-1:1000
20-40% new mutations
90% PKD1 gnene chromosome 16
rest PKD2 on 4 (slower progression)

• Large kidneys - deffect in BM
• also blood vessel probems, pancreatic cysts, and diverticulitis

Question 10

ADPKD Cyst formation

Answer 10

Abnormal epithelial differentiation
high proliferation
secretion of fluid into cysts
abnormal ECM
interstitial fibrosis

Question 11

ADPKD Clinical manifestations

Answer 11

hematuria and mild proteinurria
HTN
RF- progressing to ESRD by 57-73 yo (50%)
Infections
stones
renal clic

Question 12

ADPKD extrarenal manifestations

Answer 12

Hepatic cysts
intracranial aneurysms
Valvular anomolies
arterial aneurisms  (AAA or coronaries) Also berry aneurysms
IVC thrombosis
Hernias
Pancreatic cysts

Question 13

ADPKD diagosis

Answer 13

• flank pain and hematuria
• Ultrasound diagnosis
  
  • 2 cysts total by age 30
  • 2 in each kidney 30-59 YO
  • 4 cysts bilaterally >60 YO

Question 14

APKD treatment

Answer 14

HTN/infection control
Pain control
Manage extrarenal manifestations
Transplant or dialysis

Question 15

Medullar sponge kidney

Answer 15

Dilated medullary and papillary collecting ductts
Spongy appearance on pyelogram
Causes:
*UTIs
*stones
*hematuria

Question 16

Acquirred cystic disease

Answer 16

Usualy cortical
50% of patients on dialysis
May have bleeding or pain
can transform into cancer

Question 17

Renal biopsy

Answer 17

Indications:
*persistant glomerular hematuria
*persistent nephrotic proteinura
*unexplained RF
*Transplant rejection
Contraindications
*bleeding disorders
*sinle kidney
Complications
*Self limited gross hematuria
*hematoma (80%)
*Heorrhage(1-2%).3% require surgery
*Death 1/8000 cases