Pediatric Renal Disease

Question 1

CAKUT

Answer 1

Congenital Abnormality of the kidneys/urinary tract

-decreased nephron mass at birth: long term risk HTN/CVD

Question 2

Bilateral Renal Agenesis

Answer 2

Death shortly after birth

Lack of urine output means lungs do not develop (no amniotic fluid)

Question 3

Kidney Dysplasia

Answer 3

Decreased kidney function: abnormal cells

Increased risk for CKD

Question 4

Multicystic dysplastic kidney

Answer 4

Non functional, unilateral cyst

Often corrects on its own

Question 5

Horseshoe Kidney

Answer 5

Kidneys form lower in the pelvis than is normal

Increased occurrence of reflux, UTI, kidney stoneos

Question 6

Hydronephrosis

Answer 6

Most common**
Uteropelvic junction obstruction/stenosis
Kidney cannot empty (unilateral)
Swollen, distended kidney

Question 7

Primary vesicourectic reflux

Answer 7

Backflow into kidneys of urine

Question 8

Nephrocalcinosis

Answer 8

Calcifications in the kidney, typically resolve spontaneously (may need diuretic to help flush)

Question 9

Renal Vein Thrombosis

Answer 9

Blood cannot get OUT of the kidney
Causes: diabetic mother, birth asphyxia, premie, polycythemia
Sx: wet lung disease, acute renal failure, chronic renal disease
Tx: kidney transplant

Question 10

Fanconi’s Syndrome

Answer 10

Proximal Tubular reabsorption disease

Question 11

Cystinosis

Answer 11

Lysosomal storage disease leading to proximal tubulopathy, hypothyroidism, growth failure
Suspect if CORNEAL CRYSTALS

Question 12

Chronic Kidney Disease

Answer 12

Uncommon, most due to congenital causes

Question 13

Most common renal mass

Answer 13

Simple cysts

Question 14

Abnormal ureteral bud leads to

Answer 14

Multicast if dysplasic kidney disease (non functional kidneys)

Question 15

Tuberous sclerosis

Answer 15

Cause of cystic kidney disease, also has neuro SX and skin changes

Autosomal dominant

Question 16

Von hipped Lindau disease

Answer 16

Autosomal dominant

Associated with cancers

Question 17

Genetic basis of adpkd

Answer 17

*PKD 1and 2

Question 18

Genetic basis arpkd

Answer 18

Phhd1: ciliary function is impaired

Question 19

Potters sequence

Answer 19

Typical appearance of child with low amniotic fluid:
Widely spaced eyes
Broad nasal bridge
 Receding chin
*pulmonary hypoplasia

Question 20

How does ciliary dysfunction cause cysts?

Answer 20

Leads to epithelial proliferation and subsequent fluid accumulation within expansion

Question 21

Causes of pediatric renal cystic disease?

Answer 21

Genetic: ADPKD, tuberous sclerosis, Von hipped-Lindau disease, ARPKD, nephronophthisis

Acquired: simple, sinus cysts, chronic renal impairment

Developmental: medullary sponge kidney

Question 22

Features of ARPKD

Answer 22

Large cystic kidneys
Microcysts (CCD)
Hepatic fibrosis 
No extra renal cysts
HTN

Question 23

Nephronophthisis

Answer 23

Genetic recessive kidney disease, occurs in Hutterites

Huge urine volume because cannot concentrate urine

Question 24

Medullary cystic disease

Answer 24

Genetic kidney disease
No extra renal manifestations
May have gout

Question 25

Clinical features of ADPKD

Answer 25

Cysts in all parts of the nephron
Increased kidney volume

SX in 40-50s
HTN
concentrating defects, proteinuria, hematuria 
Stones, infections 
Pain due to large kidneys 

Extra renal manifestations*** 
berry aneurysms 
Hepatic, pancreatic, splenic cysts 
Heart valves abnormal
Hernias, diverticula

Question 26

Therapy ADPKD

Answer 26

Vasopressin receptor antagonists
MTOR inhibitors
Somatostatins

Control HTN (ACEI)