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renal > CAKUT + cystic disease > Flashcards

CAKUT + cystic disease Flashcards

1
Q

nephronophthisis:
- histology
- cysts - where?
- symptoms

A

tubulointerstitinal nephritis, tubular atrophy, glomerulosclerosis
cysts - esp in corticomedullary junction
polydipsia/polyuria

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2
Q

how do nephronophthisis and medullary cystic kidney disease differ?

A

MCKD in adulthood, and polyuria/polydypsia/gout only

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3
Q

how many renal cysts do we tolerate as normal variation?

A

1 renal cyst per year of life

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4
Q

PCKD (AD and AR)
- where are the cysts
- uni/bilateral kidneys
- common complications

A

cortical and medullary cysts
BILATeral
stones, RAAS > HTN, renal failure

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5
Q

ADPKD vs ARPKD
- age
- mutation
- cyst size
- cyst location

A

ADPKD:
- adult onset normally (unless PKD1 mutation, earlier, more severe )
- PKD1/2 mutation (polycystins) - two hit hypothesis
- cysts macro usually
- all parts of nephron

ARPKD:
- often renal failure before birth
- PKHD1 mutation (fibrocystin) - similar mechanism as ADPKD
- cysts micro
- collecting duct only

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6
Q

how do PKD1 and PKD2 mutations cause PCKD?

A

encode for primary cilium
in nephron, they allow Ca influx to inhibit cell proliferation
without the inhibiting signal, this allows water to enter > cysts

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7
Q

ADPKD - other abnormalities that are associated

A

liver cysts
pancreas cysts
hernias/diverticula
seminal vesicle cysts
aortic arch dilation
berry aneurysms

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8
Q

ARPKD - other associated abnormalities

A

oligohydramnios&raquo_space; Potter sequence: clubbed feet, flat nose, pulmonary hypoplasia&raquo_space; death

congenital liver fibrosis!!! > portal HTN > oesophgeal varices etc.
bile duct dilatation (Caroli’s disease) and cholestasis

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9
Q

MCDK vs PCKD
- inheritance
- uni/bilateral
- how the cysts form

A

MCDK:
sporadic, usually unilateral
ureteric bud malformation > urine backs up > cysts - it doesn’t function!

PCKD
AD(mostly)/AR, bilateral
cilia abnormal > cysts

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10
Q

most common hereditary human kidney disease is…

A

…ADPKD (1/400-1/1000)

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11
Q

nephronophthisis - what extra-renal manifestations can they have?

A

genes encoding cilia/centrosome, so can have other things wrong

some = skeletal: polydacytyly, craniosynotosis etc.
nephronophthisis = neuro = dev delay, hypotonia
children = cardiac: sinus invertus
have = hepatic: fibrosis
extra-renal = eye, retinitis pigmentosa

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12
Q

infantile nephronophthisis vs juvenile

A

infantile - onset before 3yo, severe HTN, extra-renal manifestations more common 80% - esp **situs invertus

juvenile - later onset, ESRF ~13yo, more common!

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13
Q

name the 4 syndromic cystic renal diseases to know, and what cystic disease are they associated with

A

Just bring me oreos:

joubert - NPHP
bardet-biedl - NPHP
meckel-gruber - NPHP
orofacial digital syndrome type 1 - ADPKD

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14
Q

Joubert syndrome - key clinical triad

A

i. Cerebellar and brainstem malformation = molar tooth sign (vermal aplasia)
ii. Hypotonia
iii. Developmental delays

(and renal disease - a/w NPHP)

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15
Q

pathogenesis of why tuberous sclerosis and renal disease are related, and what kind of renal disease is related

A

TSC2 lies adjacent to PKD1 –> contiguous deletions.
• 75% develop angiomyolipomata
• 20% develop simple cysts
• PCKD develops in <5%
• can also get RCC

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16
Q

how is diabetes associated with renal cystic disease?

A

MODY5 - mutation HNF1B (hepatocyte nuclear factor 1 B) –> T2DM + renal cysts, also a/w PKD1

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17
Q

MCKD now known as?

A

ADTKD = autosomal dominant tubulointerstitial kidney disease

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18
Q

summary of embryonic nephrogenesis

A
  • week 4: intermediate mesoderm > urogenic ridge > nephrogenic cord > pronephros
  • week 4-5: mesonphros: more tubules. fuse with cloaca. ureteral bud forms.
  • week 5 metanephros begins: ureteral bud grows into the metanephric blastema to continually divide into collecting system. metanephric mesoderm form cap on the collecting tubules, and the tubules signal the mesoderm to make the…nephron.
19
Q

when to do USS post birth?

A
  • USS within 24 hours of life for any infants with bilateral involvement/ solitary affected kidney
  • All other scans should be performed at D4-5: to ensure adequate renal plasma flow and rise in GFR
20
Q

what other abnormalities are CAKUT associated with?

A

single umbilical artery, external ear anomalies, imperforate anus and scoliosis

21
Q

renal agenesis vs aplasia

A

agenesis = no tissue
aplasia = nubbin of tissue

22
Q

conditions associated with renal agenesis / aplasia

A
  1. single umbilical artery
  2. contralateral VUR
  3. mullerian defects
  4. branchio-oto-renal syndrome
  5. syndromes - VATER, turner
23
Q

name 5 causes of the potter sequence

A

MARCO:

medullary hypoplasia
AR PCKD (infantile)
renal hypoplasia
cystic renal dysplasia
obstructive uropathy

24
Q

MCDK associated with what contralateral disease

A

1/3 have abnormal contralateral kidney:
VUR
obstruction/ ectopic ureter
hydronephrosis

25
Q

consequences/progression of MCDK

A

complete involution of 60% by 10yo
HTN
not wilm’s (says Lil)

26
Q

horseshoe kidney
what?
a/w
risk of

A

lower pole of kidneys fused
a/w: Turners, VACTERL, Turner, T13, T18, T21
risk of: UTI, obstruction and hydronephrosis, calculi, Wilm’s

27
Q

Most common cause of antenatally detected hydronephrosis is?

A

PUJ obstruction

28
Q

PUJ obstruction:
- aetiology
- clinical presentation
- associated with
- Mx

A
  • intrinsic vs extrinsic (most commonly an aberrant renal artery)
  • fetal/neonatal on USS vs children with flank pain/recurrent UTIs
  • horseshoe kidney, VUR, CHARGE
  • if MAG3 shows obstruction > pyeloplasty
29
Q

what is the most common anomaly of the ureteric tract?

A

ureter duplication (complete i.e. two of everything or partial)

30
Q

abnormalities of the ureteric system: what kind of abnormalities can there be - think of each part

A
  1. Renal pelvis = PUJ obstruction
  2. Ureter = VUR, megaureter, ureterocele, duplications
  3. Bladder = bladder exstrophy
  4. Urethra = valve
31
Q

ectopic ureter:
- what
- sex

A
  • A ureter that drains outside the bladder
  • females 3x more common
32
Q

ectopic ureter most associated with what condition?

A

duplex kidney

33
Q

clinical presentation of ectopic ureter

A

antenatal /neonatal - hydronephrosis
post-natal
- UTI, flank pain, female incontinence***

34
Q

VUR
- genetics
- sex

A
  • AD with variable penetrance - siblings can have scarring / also have reflux
  • males more common
35
Q

aetiology of VUR

A

primary - PUV, uretocoele with duplication, ureteral duplication
secondary - neuropathic bladder, obstruction, bladder instability

36
Q

clinical presentation/risks of VUR

A

pyelo / recurrent UTIs
hydronephrosis
flank pain
reflux nephropathy > ESRF
HTN (MOST COMMON)

37
Q

diagnostic test for VUR

A

MCUG

38
Q

Mx for VUR

A

Mx bladder/bowel dysfunction
abx prophylaxis
circumcision if appropriate
surgical reflux
MCUG/imaging every 12m

39
Q

prune belly syndrome - classic triad

A
  1. Abdominal muscle deficiency
  2. Severe urinary tract abnormalities - VUR, hydronephrosis,
  3. Bilateral cryptorchidism in males
40
Q

causes of unilateral vs bilateral hydronephrosis

A

unilateral: PUJ/VUJ obstruction
bilateral: bladder outlet obstruction / PUV

41
Q

clinical manifestations/complications of VUR

A

recurrent UTIs
hydronephrosis antenally in 50%
delayed daytime continence
CKD
non-compliant hypertonic bladder

42
Q

ix for PUV

A

USS
MCUG
cystoscopy is gold standard

43
Q

Mx of PUV

A

prophylaxis for UTIs
bladder compliance - e.g. augmentation
surgery
- cystoscopy and ablation
- mitrofanoff / CICs

44
Q

poor prognostic factors for PUV

A
  • Oligohydramnios
  • Hydronephrosis evident < 24 /40
  • Bilateral cortical renal cysts
  • Persistent Cr elevation after decompression

renal (6 decks)

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