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Ginjal > Polycystic Kidney Disease > Flashcards

Polycystic Kidney Disease Flashcards

1
Q

What is the common protein in ADPKD proteins?

A

Polycystin

Polycystin 1 = PKD 1
Polycystin 2 = PKD 2

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2
Q

Other genes that involved?

A

GANAB
DNAJB 11
ALG 9

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3
Q

Pathophysiology of PKD

A

Loss of functional Polycystin (mutation) of genes
2nd hit hypothesis: + acquired somatic loss of haplotype
Increased cAMP - decreasing intracellular Ca2+ — (leads to increase fluid secretion+cyst formation)
Angiogenesis
Abnormal cilia function

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4
Q

What is the function of these gene?

A

PKD-1: regulate tubular epithelial cells adhesions and differentiation (cyst formation)

PKD-2: act as ion channel (if lack - increase fluid secretion into cyst)

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5
Q

PKD-1 vs PKD-2 (diff)

A

Gene involvement: PKD-1 (chr 16), PKD-2 (chr 4)
Severity: PKD-1 > PKD-2
Cyst formation: earlier in PKD-1 (young age) , lesser in PKD-2
Progression: PKD-1 > PKD-2
ESRF: earlier in PKD-1 (50+) > PKD-2 (70+)

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6
Q

What is the common cause of death in pt with ADPKD?

A
  1. Cardiac death
  2. Infection
  3. Neurological cx - ruptured aneurysm / ICB
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7
Q

Causes of hypertension in ADPKD

A
  1. Activation of RAAS
  2. Impaired endothelium-dependent vasorelaxation (sama gene in vascular smooth ms)
  3. Increased sympathetic nerve activity, plasma endothelin rec and insulin resistance
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8
Q

What is ‘total kidney volume’ (TKV)

A

Total volume of cyst that can potentially affect the kidney function

*prognostic marker
** higher TKV, high BP

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9
Q

USG criteria for diagnosis

A

Age: 15 / 30 / 40 / 60

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10
Q

What are the differential diagnosis for atypical presentation ?

A

ARPKD
Von Hippel Lindau dz
Tuberous sclerosis dz
DM with HNF1B mutations
Medullary sponge disease
Oro-facial digital syndrome type 1

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11
Q

What are the kidney manifestation of ADPKD?

A
  1. Mass effect - renomegaly
  2. HPT and TOD (mainly cardiac cx)
  3. Hematuria - cyst ruptured / haemorrhage / infection / renal Stone / RCC
  4. CKD - leading to ESRF
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12
Q

Risk factor leading to ESRF

A
  • rate of eGFR deterioration: 4.5-6.0 ml/min per year
  1. Male
  2. Diagnosis before age of 30 yo
  3. Hematuria episode before age of 30
  4. Onset of hpt before 35 yo
  5. HPL: low HDL
  6. PKD-1
  7. Sickle cell trait
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13
Q

Extrarenal manifestation

A
  1. Polycystic kidney disease
  2. Intracranial aneurysm
  3. Other vascular abN: Arterial dissection, coronary art aneurysm, retina vessels occlusion
  4. Valvular heart dz: MVP
  5. Cyst elsewhere: pancreas, seminar vesicles, prostate - defective motility
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14
Q

Role of neurological screening?
When is indicated?

A

Not indicated for all

UNLESS
1. FH of intracranial aneurysm / ICB
2. Prev aneurysm ruptured
3. Prep for elective Surgery - with potensial hemodynamic instability
4. High risk occupations - pilot
5. Anxiety pt despite explaination

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15
Q

Principal of ADPKD mx

A

CKD retardation
Non pharm mx
1. Low salt diet (<2g/day)
2. Increase water intake (aim urine Osm 250)
3. Monitor cyst growth & cx (renal / extrarenal)
4. Family counselling / screening

Pharm mx
1. Control BP
- aim BP: 120/80mmhg / 110/75mmHg (young, eGFR > 60)
- ACE / ARB
2. Disease modifying agent: tolvaptan

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16
Q

Important clinical trial in ADPKD

BP
ACE / ARB

A

BP: HALT PKD (study A)
NJEM 2014
Standard BP vs intensive BP
(120-130/70-80) vs (95-110/60-75)
- intensive BP - slower TKV increament, reduced albuminuria, lower LV mass index
- NO diff in eGFR

ACE / ARB: HALT PKD (study B)
NJEM 2014
(Lisinopril) vs (lisinopril+placebo) vs (telmisartan)
NO diff in eGFR declined / TKV / ESKD / albuminuria / death

17
Q

Important clinical trial in ADPKD

Tolvaptan
(Vasopressin antagonists)

A

TEMPO 3:4
TEMPO 4:4
REPRISE

18
Q

TEMPO 3:4 trial

A

Tolvaptan vs placebo

Up to 3 yrs f/up

Primary end point: slower TKV growth
(2.8% vs 5.5% per year ~ p<0.001)

Sec end point: slower renal function decline

Discont due to SE (up to 23%)

19
Q

TEMPO 4:4 trial

A

Additional 2 years f/up of TEMPO 3:4

Support the sustained dz modifying effect of tolvaptan seen in TEMPO 3:4

Safety profile was similar

20
Q

REPRISE trial

A

Tolvaptan vs placebo

21
Q

Important clinical trial in ADPKD

Other agent:

A

TAME PKD: metformin

MTori (everolimus)

ALADIN 1 & 2: Octreotide

Ginjal (14 decks)

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