Cystic, Congenital & Familial Diseases Of The Kidneys

Question 1

What genes play roles in kidney formation?

Answer 1

PAX2
HNF1B
WT1

Question 2

PKD1/PKD2 mutations are seen in?

Answer 2

Polycystic kidney disease

Question 3

COL4A mutation is seen in?

Answer 3

Alport Syndrome

Question 4

Which cyst classification may suggest malignancy?

Answer 4

Complex Cysts

Question 5

What percentage of mutations occur in PKD1/PKD2?

Answer 5

PKD1- 85%

PKD2- 15%

Question 6

What are the clinical features of ADPKD?

Answer 6

Enlarged Kidneys

Hypertension

Hematuria

Chronic Pain

Renal Failure

Question 7

What is the primary diagnostic tool for ADPKD?

Answer 7

Ultrasound

Question 8

Management of ADPKD?

Answer 8

Blood pressure control: ACEI or ARB

Disease-modifying therapy: Tolvaptan to slow cyst growth

Complications: Managing chronic pain, Recurrent infections and Nephrolithiasis

Question 9

What are the complications of ADPKD?

Answer 9

Liver Cysts

Intracranial Aneurysms

Question 10

ARPKD is due to mutation of ?

Answer 10

PKHD1

Question 11

What are the clinical features of ARPKD?

Answer 11

Enlarged & Echogenic kidneys in neonates

Associated Hepatic Fibrosis

Question 12

ARPKD is diagnosed on Ultrasound which shows?

Answer 12

Oligohydramnios & Enlarged kidneys

Question 13

Management of ARPKD?

Answer 13

Supportive care: Dialysis, Nutritional support

Addressing hepatic complications: Portal Hypertension, Liver Transplant in severe cases

Question 14

What is medullary cystic kidney disease?

Answer 14

It is a genetic condition which causes tubular atrophy & interstitial fibrosis

Question 15

What are the symptoms of medullary cystic kidney disease ?

Answer 15

Polyuria
Polydipsia
Progressive CKD

Question 16

What is the risk factor for developing an Acquired cystic kidney disease?

Answer 16

Long-term dialysis patients

Question 17

What is the clinical implication of ACKD?

Answer 17

Increased risk of renal cell Carcinoma

Question 18

Management of ACKD?

Answer 18

Regular Imaging Surveillance for Malignancy

Question 19

Pathogenesis of Multi-cystic Dysplastic Kidney (MCDK)

Answer 19

Abnormal interaction between ureteric bud & mesenchyme

Question 20

Diagnosis of Multi-cystic Dysplastic Kidney (MCDK)

Answer 20

Prenatal USS showing non-functioning cystic kidney

Question 21

Management of Multi-cystic Dysplastic Kidney (MCDK)

Answer 21

Observation if Unilateral

Nephrectomy if Symptomatic

Question 22

Although unilateral agenesis is often asymptomatic, it usually leads to?

Answer 22

Compensatory Hypertrophy

Question 23

Clinical features of Potter’s Syndrome

Answer 23

P-Pulmonary hypoplasia
0 -Oligohydramnios
T Twisted skin (wrinkly skin)
T -Twisted face (Potter face)
E -Extremities defects
R -Renal agenesis

Question 24

Bilateral agenesis often leads to?

Answer 24

Potter’s Syndrome
(It is incompatible with life)

Question 25

What are the features of duplex kidney & ureteral abnormalities?

Answer 25

Double Renal Pelvis or Ureter Associated with Vesico-ureteral reflux

Question 26

What are the complications of duplex kidney & ureteral abnormalities?

Answer 26

Recurrent UTIs Obstruction

Question 27

What is the management of duplex kidney & ureteral abnormalities?

Answer 27

Surgical correction if symptomatic

Question 28

What is seen in the anatomy of Horseshoe Kidney?

Answer 28

Fusion of the lower poles

Question 29

What are the complications of Horseshoe Kidney?

Answer 29

Infections Stones Obstruction

Question 30

What imaging modalties are used in diagnosis of Horseshoe Kidney?

Answer 30

USS/CT

Question 31

The most common presentation seen in Posterior Urethral Valve is?

Answer 31

Bladder outlet obstruction in male neonates

Question 32

How is Posterior Urethral Valve diagnosed?

Answer 32

Voiding Cysto-urethrogram (VCUG)

Question 33

Polyuria, Polydipsia & Progressive CKD are seen in?

Answer 33

Medullary Cystic Kidney Disease

Question 34

Management of PUV?

Answer 34

Endoscopic ablation Long term follow-up for renal dysfunction

Question 35

In Alport Syndrome there’s mutation in what genes?

Answer 35

COL4A3 COL4A4 COL4A5

Question 36

What is the clinical triad seen in Alport Syndrome?

Answer 36

Hematuria Progressive Proteinuria Hearing loss

Question 37

Diagnosis of Alport Syndrome

Answer 37

Genetic testing Kidney biopsy show a thin or split basement membrane

Question 38

Management of Alport Syndrome

Answer 38

ACE Inhibitors Hearing aids Potential Kidney Transplant

Question 39

Fabry Disease is caused by?

Answer 39

GLA mutation causing alpha-galactosidase A deficiency

Question 40

What inheritance pattern is Fabry Disease?

Answer 40

X-linked (affecting mainly males)

Question 41

Symptoms of Fabry Disease

Answer 41

Proteinuria Neuropathy Angiokeratomas (Angiokeratoma is a benign cutaneous lesion of capillaries, resulting in small marks of red to blue color and characterized by hyperkeratosis)

Question 42

Management of Fabry Disease

Answer 42

Enzyme replacement therapy

Question 43

What Familial kidney disease presents with Neuropathy, Proteinuria & Angiokeratoma?

Answer 43

Fabry Disease

Question 44

What is the pathogenesis of Thin Basement Membrane Nephropathy?

Answer 44

Benign Familial Hematuria

Question 45

How is Thin Basement Membrane Nephropathy distinguished from Alport syndrome?

Answer 45

Thin Basement Membrane Nephropathy is distinguished from Alport syndrome by the absence of progression to CKD

Question 46

What is the inheritance pattern of Cystinuria?

Answer 46

Autosomal Recessive

Question 47

Clinical features of Cystinuria

Answer 47

Recurrent Cystine Kidney Stones

Question 48

Management of Cystinuria

Answer 48

High fluid intake Alkalinizing agents Thiol-binding drugs

Question 49

What is the cause of Primary Hyperoxaluria?

Answer 49

Enzyme deficiencies leading to oxalate overproduction

Question 50

Management of Primary Hyperoxaluria?

Answer 50

Pyridoxine Dialysis Liver-kidney transplant in severe Cases

Question 51

Mention 5 Congenital Kidney Diseases

Answer 51

Multicystic Dysplastic Kidney (MCDK) Renal Agenesis & Hypoplasia Duplex kidney & Ureteral Abnormalities Horseshoe Kidney Posterior Urethral Valves (PUV)

Question 52

Mention 5 Familial Kidney Diseases

Answer 52

Alport Syndrome Fabry Disease Thin Basement Membrane Nephropathy is Cystinuria Primary Hyperoxaluria