Inherited Kidney Disorders

Question 1

name 3 common congenital kidney disorders

Answer 1

horseshoe, renal agenesis, dysplastic kidney

Question 2

what is the most common congenital renal anomaly

Answer 2

horseshoe kidney

Question 3

what is horseshoe kidney and where is it usually found

Answer 3

conjoined kidneys at inferior poles, is found in lower abdomen as gets caught in inferior mesenteric artery during ascent

Question 4

what are symptoms of horseshoe kidney/ how is it diagnosed

Answer 4

asymptomatic but can cause obstruction - incidental finding

Question 5

what is renal agenesis

Answer 5

kidney does not form, can bu uni or bilateral

Question 6

what does unilateral agenesis result in

Answer 6

hypertrophy of existing kidney, hyperfiltration which can cause kidney failure in later life

Question 7

what does bilateral agenesis result in

Answer 7

is incompatible with life

Question 8

what is dysplastic kidney

Answer 8

malformation of renal parenchyma resulting in cysts and abnormal tissue eg cartilage

Question 9

if dysplastic kidney is bilateral what should be investigated

Answer 9

polycystic kidneys

Question 10

what is more common autosomal dominant or recessive polycystic kidney disease

Answer 10

autosomal dominant - ADPKD

Question 11

what age does ADPKD tend to present at

Answer 11

in adulthood

Question 12

what 2 genes can be mutated in ADPKD and which is more common

Answer 12

PKD1 (85%) on chromosome 16 // PKD2 (15%) more common on chromosome 4

Question 13

in ADPKD what gene mutation is likely to cause ESKD first

Answer 13

PKD1 (around 50 yo)

Question 14

what are the main clinical findings of ADPKD (4)

Answer 14

bilateral renal enlargement with cysts, chronic abdominal pain, hypertension, haematuria

Question 15

where do the cysts arise from in ADPKD

Answer 15

epithelial from renal tubules

Question 16

what extra-renal complications are common in ADPKD (5)

Answer 16

1) hepatic cysts (most common) 2) subarachnoid haemorrhage 3) mitral/ aortic valve prolapse 3) diverticular disease 5) abdo/ inguinal hernia

Question 17

how do hepatic cysts in ADPKD commonly present

Answer 17

10 years after renal cysts develop, SOB, pain, ankle swelling (preserved liver function)

Question 18

if ADPKD was to present in children what age would be expected and what would be enough for diagnosis

Answer 18

in utero or first year, single cyst on kidney (is rare)

Question 19

what is the first line investigation for ADPKD

Answer 19

USS

Question 20

what would ADPKD show on an USS

Answer 20

multiple, bilateral cysts and renal enlargement

Question 21

what investigation is used if USS is unclear

Answer 21

MRI (gold standard) -( and genetic analysis)

Question 22

what is the management for ADKPD (4)

Answer 22

1) hypertension management - ACEi 2) cyst reduction - tolvaptan 3) U+E monitoring 4) renal failure - dialysis and transplant

Question 23

when does ARPKD tend to present

Answer 23

in young children (severe cases do not survive neonatal period)

Question 24

on what gene is the ARPKD mutation found

Answer 24

PKDH1 on chromosome 6

Question 25

how does ARPKD normally present (5)

Answer 25

1) hepatic and renal cysts and fibrosis 2) hypertension 3) recurrent UTIs 4) slow decline in GFR

Question 26

what investigation is done for ARPKD

Answer 26

USS: bilateral cysts and enlarged kidneys - (genetic testing)

Question 27

what is the main difference between ADPKD and ARPKD

Answer 27

ARPKD presents earlier, is more likely to have liver involvement, is less common and is more severe

Question 28

what type of inheritance in Allport’s syndrome (hereditary nephritis) and which gene is it on

Answer 28

X linked inheritance - COL4A5 gene

Question 29

what is Allport’s syndrome a disorder of

Answer 29

type IV collagen matrix - glomerular syndrome

Question 30

what is the most common symptom of Allport’s

Answer 30

haematuria

Question 31

what are some other symptoms of Allports

Answer 31

proteinuria, sensorineural deafness, ocular defects, leiomyamatosis of oesophagus/ genitals (rare)

Question 32

what symptoms of Allports is associated with bad prognosis

Answer 32

proteinuria

Question 33

how is Allports diagnosis

Answer 33

haematuria + hearling loss –> renal biopsy (variable thickness in GBM)

Question 34

how do you manage Allport’s

Answer 34

symptomatic: treat BP, proteinuria, hearing aids, dialysis and transplant

Question 35

what type of inheritance in fabry’s disease

Answer 35

X linked

Question 36

what type of disease is Fabry’s disease

Answer 36

lysosomal storage disease - glomerular syndrome

Question 37

what does Fabry’s disease cause a deficiency of

Answer 37

a-galactodisase A

Question 38

which systems does Fabry’s disease affect (4)

Answer 38

kidney, liver, lungs, erythrocytes (blood)

Question 39

what are the clinical features of Fabry’s (5)

Answer 39

1) renal failure 2) cutaneous angiokeratomas (dark red spots) in umbilical area 3) cardiac myopathy and valvular disease 4) stroke 5)psychiatric symptoms

Question 40

how do you diagnose fabry’s

Answer 40

plasma/ leukocytes analysis, renal biopsy, skin biopsy

Question 41

how do you treat fabry’s

Answer 41

enzyme replacement - fabryzyme

Question 42

what type of inheritance is medullary cystic kidney

Answer 42

autosomal dominant (rare)

Question 43

what happens in medullary cystic kidney

Answer 43

morphologically abnormal renal tubules –> fibrosis –> shrunken kidneys.

Question 44

where do the cysts form in medullary cystic kidney

Answer 44

corticomedullar junction

Question 45

how do you diagnose medullary cystic kidney (4)

Answer 45

CT, age 28, renal medullary cysts, kidney transplant

Question 46

what is the inheritence of medullary spongey kidney

Answer 46

sporadic

Question 47

what is the pathology of medullary spongey kidney

Answer 47

dilation of collecting ducts, cysts have calculi

Question 48

how do you diagnose medullary spongey kidney

Answer 48

excretion urography