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METABOLIC > RENAL - CYST DISORDERS > Flashcards

RENAL - CYST DISORDERS Flashcards

1
Q

What is polycytic kidney disease?

A

A genetic disease where kidneys become filled with many cysts causing them to be larger than normal and to decline in function.

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2
Q

Where in the kidneys do cysts form in polycytsic kidney disease?

A

Cortex and medulla
Early cysts development is usually in distal regions

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3
Q

What are cysts in PKD lined with?

A

renal tubule epithelium

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4
Q

Why can PKD cause renal failure?
How common is this?

A

Blood vessels of neighbouring nephrons can be con pressed by growing cysts which starves them with oxygen
If enough nephron are affected it can caus renal failure

Affects 50% of patients by 60 years of age

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5
Q

Why does PKD cause hypertension?

A

Chronic intrarenal ischameia -> Poorly perfused kidneys respond by activating the RAAS which facilitates fluid retention and causes hypertension

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6
Q

Why can PKD cause stones?

A

Some cysts can compress the collecting system, causing urinary stasis - this can lead to kidney stones

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7
Q

What are the symptoms of PKD?

A

Flank pain
Haematuria
Fatigue, weakness
Dilute polyuria

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8
Q

What are some signs of PKD?

A

Bilateral flank masses
Hepatomegaly from polycystic liver disease
Hypertension

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9
Q

What are the 2 types of PKD?

A

Autosomal dominant PKD
Autosomal recessive PKD

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10
Q

Whats the main difference in phenotype of autosomal dominant PKD and autosomal recessive PKD/

A

Dominant manifests in adults
Autosomal recessive manifests in infancy

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11
Q

Whats the pathology of autosomal dominant PKD?

A

PKD1 mutations
PKD 2 mutations

These code for polycystin 1 and 2 proteins which are components of the primary cilium. When urine flows past, the cilium bends and these proteins allow calcium influx which activates pathways in the cell that inhibit cell proliferation. These mutations mean cells proliferate abnormally and start to express proteins that allow water into the cyst lumen.

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12
Q

Why is autosomal dominant PKD technically a recessive disease at the cellular level?

A

Because you inherit a single heterozygous mutation in PKD1 or PKD2 which leaves a functional choromosome- this technically is enough to prevent cyst formation. A random mutation in the remaining good gene is almost guaranteed to happen in some cells as the kidney develops - and this causes polycystin 1 or 2 to be absent altogether

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13
Q

What organs can cysts affect in autosomal dominant PKD?

A

Polycystic liver disease
Pancreatic cysts
Cerebral berry aneurysms
Cardiac valve disease - mostly mitral valve prolapse and aortic regurgitation
GI abnormalities like diverticulitis and hernias occur more often
Seminal vesicles cysts can cause infertility

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14
Q

Whats the pathology of autosomal recessive PKD?

A

Inherited mutations in both copies of PKHD1 gene which codes for fibrocystin protein occurs. This protein co-localises with polycystin 2 and may be involved in the regulation of calcium signalling (as in ADPKD) - this influx of calcium is prevented so cells proliferate

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15
Q

What are the complications of autosomal recessive PKD?

A

Potters sequence
Portal hypertension
Cholestasis
Ascending cholangitis

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16
Q

Why can autosomal recessive PKD cause potters sequence?

A

Renal failure can occur before birth = less foetal urine = oligohydramnios = potters sequence

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17
Q

Why can autosomal recessive PKD cause portal hypertension?
What are the effects of this?

A

It can cause congenital hepatic fibrosis which leads to portal hypertension
This can cause oesophageal varicese, upper GI bleeds, haemorrhoids and splenomegaly

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18
Q

Why can autosomal recessive PKD cause ascending cholangitis?

A

Primary cilia on cholangiocytes also express fibrocystin, ARPKD can cause bile duct defects which leads to dilation. Dilated common bile duct can cause ascending cholangitis

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19
Q

Why can autosomal recessive PKD cause cholestasis?

A

Primary cilia on cholangiocytes also express fibrocystin, ARPKD can cause bile duct defects which leads to dilation. Dilated intrahepatic ducts can cause cholestasis.

20
Q

How is PKD diagnosed?

A

Ultrasound imaging for identifying multiple bilateral renal cysts
Genetic testing can be done

21
Q

What are some complications of cysts in PKD?

A

Ruptures of cysts
Haemorrhagic cysts
Infected cysts

22
Q

What is multicystic dysplastic kidney?

A

A congenital disease where 1 or both kidneys don’t form right causing them to not drain urine properly - this causes urine to build up in the kidneys and form cysts.

23
Q

Outline the pathology of multicystic dysplastic kidney?

A

A sporadic disease with no inheritance pattern
Thought to be a ureteric bud or mesonephric malformation so collecting tubules in kidneys don’t develop properly. This means urine can’t be drained and fluid-filled cysts form. These gradually replace normal kidney tissue so kidney function declines

24
Q

Does multicystic dysplastic kidney usually affect 1 or both kidneys?

A

Usually 1 but can affect both
If 1 is affected then the other may be able to preserve normal kidney function

25
Q

What is a potential cause for multicystic dysplastic kidney?

A

Prescription drugs for maternal hypertension such as ACEi
Illicit drugs

26
Q

Who’s multicystic dysplastic kidney more common in?

A

Biological males
Those with genetic syndromes like papillorenal syndrome
Those with errors in genes EYA1, SIX1, PAX2

27
Q

Whats the prognosis for multicystic dysplastic kidney?

A

Unilateral - observation as affected kidney will involute
Bilateral will require dialysis and transplant
If bilateral and severe then baby is unlikely to survive

28
Q

What are the complications of multicystic dysplastic syndrome?

A

Bilateral - potters sequence
Unilateral - risk of CKD

29
Q

How is multicystic dysplastic kidney diagnosed?

A

Can be found using antenatal ultrasound where kidneys are visualised to have multiple large, peripheral cysts. Sometimes a neonate has a palpable flank mass which is ultrasounded and McDK is discovered.

30
Q

What are the similarities between Nephronopthisis and medullary cystic kidney disease?

A

genetic conditions that affect the nephrons and lead to cysts. Both cause tubulointerstitial fibrosis and inflammation, tubular atrophy, cysts in corticomedulalry junction and glomerular sclerosis. It also causes polyuria and polydypsia, salt wasting and eventually renal failure.

31
Q

How is medullary cystic kidney disease different to Nephronopthisis?

A

MCKD occurs in adulthood, there are no symptoms in other organs (except for hyperuricaemia due to a failure to excrete uric acid -> gout). It’s Autosomal dominant.
It’s caused by the MUC1 or UMOD or REN gene mutations

32
Q

When does Nephronopthisis present?

A

In childhood

33
Q

Outline the pathology of Nephronopthisis?

A

The tubules atrophy and the interstitium gets infiltrated by macrophages and becomes fibrotic. Affected tubules lose their ability to concentrate the urine so we get polyuria and therefore polydypsia. Sodium wasting also occurs. Later on in the disease, glomeruli can become sclerosed and cysts can form, particularly in the corticomedulary junction. Overtime this leads to renal insufficiency - this can lead to uraemia and anaemia -> eventually leads to renal failure in teenage years

34
Q

Whats the genetic basis behind Nephronopthisis?

A

Autosomal recessive with the most common gene mutation being NPHP1
All genes affect protein in primary cilia or centrioles and these defects lead to tubule atrophy

35
Q

Why can Nephronopthisis affect other organs? What does it affect?

A

because these cilia and centrioles that have genetic mutations are present in other organs
it can cause liver fibrosis or situs inversus (major visceral organs reversed form normal positions)

36
Q

What are the 3 genetic mutations causing medullary cystic kidney disease?

A

Mucin 1 kidney disease - MUC1 gene mutation
Uromodulin kidney disease - UMOD gene mutations
REN gene mutations

37
Q

What are the complications of medullary cystic kidney diseasE?

A

Gout
CKD
ESRD
Hypotension (reduced renin)
Anaemia

38
Q

How is medullary cystic kidney disease diagnosed?

A

Renal biopsy and genetic testing

39
Q

How is medullary cystic kidney disease treated?

A

Dialysis or transplant

40
Q

What is medullary sponge kidney also known as?

A

cacchi-Ricci disease

41
Q

What is medullary sponge kidney?

A

A rare congenital disease with dilated collecting ducts and small cysts

42
Q

Whats thought to cause medullary sponge kidney?

A

a mesonephric duct or ureteric duct not forming right, or both.

43
Q

When do complications tend to arise from medullary sponge kidney?

A

Often not till adulthood

44
Q

What are the main complications of medullary sponge kidney disease?

A

Nephrolithiasis - high levels of calcium, oxalate etc and low levels of citrate. Stones and cysts cause stagnant urine which increases time for precipitation
Metabolic acidosis
UTI

45
Q

How is medullary sponge kidney disease diagnosed?

A

Intravenous pyelogram - shows dilated collecting ducts and stones

46
Q

How do you treat medullary sponge kidney disease?

A

No treatment but managing stones and UTIs

METABOLIC (43 decks)

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