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PCKD Flashcards

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1
Q

PKD1 & PKD2 gene
⭐ Produces
⭐ Genes

🧠⚡4² = 16 ⚡

A

⭐ POLYCYSTIN 1 & POLYCYSTIN 2

⭐ PKD1 gene = Ch 16p
⭐ PKD2 gene = Ch 4q

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2
Q

Which gene mutation in ADPKD has BETTER PROGNOSIS

A

PKD2 gene

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3
Q

PKD3 gene
⭐ produces

A

GANAB gene
⭐ POLYCYSTIN 3

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4
Q

Function of POLYCYSTIN

A
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5
Q

Which RECEPTORS are UPREGULATED in ADPKD?

🧠⚡CVS⚡

A
  1. cAMP
  2. V2 Receptors
  3. Somatostatin RECEPTORS
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6
Q

DOC for ADPKD

A

TOLVAPTAN

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7
Q

REVERSE UNIFIED DIAGNOSTIC CRITERIA
⭐ Used for diagnosis of
⭐ Based on

A

🎯 ADPKD
🎯 USG: Kidney

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8
Q

REVERSE UNIFIED DIAGNOSTIC CRITERIA

A
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9
Q

If Adult with FAMILY H/O ADPKD does not develop CYSTS in Kidney (MRI) by 30 years, the

A

Will NOT DEVELOP ADPKD

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10
Q

⚡⚡ MOST COMMON AGE OF PRESENTATION of ADPKD

A

20-40 yrs

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11
Q

🧑🏻‍⚕️ Clinical Features of POLYCYSTIC KIDNEY DISEASE

A
  1. Hypertension
  2. Renomegaly ➡️ Abdominal discomfort
  3. Nocturia (DUE TO: Impaired CONCENTRATING Ability of Kidney)
  4. Anemia: Rare
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12
Q

60/60 rule in ADPKD

A

By 60 years of AGE, 60% patients will develop ESRD

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13
Q

Poor PROGNOSTIC FACTORS in ADPKD

A
  1. Black ♂️
  2. < 30 years
  3. Hematuria
  4. HTN at < 35 years age
  5. PKD1 TRUNCATING mutation
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14
Q

STRONGEST RISK FACTOR FOR RENAL FUNCTION DECLINE in ADPKD

A

Kidney Volume & Cyst Volume
(Diagnosed in MRI)

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15
Q

COMPLICATION of ADPKD

A
  1. Hypertension
    ✨ Target organ damage
    ✨ Biventricular Diastolic Dysfunction
  2. CYST Rupture(rare) ➡️ PERITONITIS
  3. ABDOMINAL PAIN
    ✨ CYST infection
    ✨ CYST hemorrhage
    ✨ Stones (Uric acid > Calcium oxalate)
  4. Necrotizing Pyomyositis
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16
Q

Indication of FDG-PET SCAN in ADPKD

A

Infections

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17
Q

Indication of CT-Urography SCAN in ADPKD

A

Stones

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18
Q

💊💉 MANAGEMENT of ADPKD

🧠⚡3C for Cyst infection ⚡

A
  1. Hypertension
    ⭐ ACE ⛔ (OR) ARBs
  2. Cyst Infection
    ⭐ Carbapenams
    ⭐ Ciprofloxacin
    ⭐ Cotrimoxazole
  3. Stones
    ⭐ Potassium Citrate
  4. Hydration
    ⭐ > 4 liters/day
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19
Q

Target BP in ADPKD

A

SYSTOLIC: 95-110
DIASTOLIC: 60-75

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20
Q

Why HYDRATION is an IMPORTANT TREATMENT MANAGEMENT TOOL in ADPKD?

A

Cyst growth is dependent on ADH
⬇️
Drinking LOTS of WATER ➡️ ADH ⬇️⬇️

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21
Q

NOVEL TREATMENT OPTIONS for ADPKD

A
  1. TOLVAPTAN
  2. SOMATOSTATIN
  3. EVEROLIMUS
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22
Q

Pre-transplant NEPHRECTOMY INDICATIONS in ADPKD

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A
  1. Infections
  2. Bleeding
  3. Obstruction
  4. Hypertension
23
Q

Can Son (OR) Daughter of a patient of ADCKD be a donor?

Study These Flashcards
A

Yes
If completed 30yrs age & NO CYST on MRI

24
Q

ASSOCIATIONS OF ADPKD
🧠⚡ Berries Are Very High In Vitamin C²⚡

Study These Flashcards
A

Berries- Berry Aneurysms
Are- Aortic Dissection
Very- Valves: Mitral prolapse/Bicuspid AV
High- Hypertension
In- Intracranial Dolichoectasia
Vitamin- Von Meyenberg Complexes
C- Cysts in liver, pancreas, spleen, ovaries
C-Colonic diverticuli

25
Extra-renal Cysts in ADPKD can be seen in all organs, except
Brain
26
Indication for REMOVAL of BERRY ANEURYSMS
Size > 10mm
27
Risk for RCC in ADPKD
Same Risk as GENERAL PUBLIC
28
If RCC develops in ADPKD, it is
✨ B/L ✨ Multicentric ✨ Sarcomatoid type
29
Mutation in ARPKD ⭐ Chromosome ⭐ Most Dangerous
PKHD1 (Fibrocystin-Polyductin Complex) ⭐ Chromosome 🎯 6 ⭐ Most Dangerous 🎯 missense TRUNCATING MUTATION
30
IN ARPKD, Renal Cysts are seen mainly in
MEDULLA ⭐ SIZE of Cyst is SMALLER ⭐ Cortical Cysts are NOT SEEN
31
Which part of the NEPHRON is affected in ARPKD
Collecting Ducts
32
PKHD1 is involved in TERMINAL DIFFERENTIATION of
1. Collecting DUCT 2. Biliary Duct
33
ASSOCIATIONS of ARPKD
1. Congenital HEPATIC FIBROSIS (Periportal Fibrosis) 2. Caroli's Disease 3. Biliary Ectasia 4. POTTER'S SYNDROME
34
⚡⚡ MOST COMMON CAUSE of DEATH IN CHILDREN with ARPKD
Congenital HEPATIC Fibrosis
35
USG of ARPKD
Hyperechoic MEDULLA with LOSS of CORTICO-MEDULLARY DIFFERENTIATION (CMD)
36
Hypoplasia of CEREBELLAR VERMIS ➕ NEPHRONOTHISIS ➕ ABNORMAL BREATHING PATTERN
JOUBERT SYNDROME
37
🧬 MODE OF INHERITENCE 💉 of JOUBERT SYNDROME
AR
38
⚡⚡ MOST COMMON presentation OF JOUBERT SYNDROME
Abnormal Breathing PATTERN ⬇️ 1. Frequent APNEA 2. Bradycardia & Alternating with HYPERPNEA
39
Copy JOUBERT cards from PEDIA
40
Small CONTRACTED KIDNEY ➕ CYSTS @ CORTICO-MEDULLARY JUNCTION ➕ Dilation of PAPILLARY COLLECTING DUCT of 1 (OR) Both Kidney
Medullary SPONGE DISEASE
41
MEDULLARY SPONGE DISEASE ⭐ GENE MUTATION 🧬 MODE OF INHERITENCE 💉
⭐ GENE MUTATION 🎯 MKCD1 gene 🎯 Ch 1q21 🧬 MODE OF INHERITENCE 💉 🎯 AD
42
🧑🏻‍⚕️ Clinical Features of MEDULLARY SPONGE DISEASE
43
Synonyms of MEDULLARY SPONGE DISEASE
1. LENARDUZZI KIDNEY 2. CACCHI & RICCI Disease
44
IVP findings of MEDULLARY SPONGE DISEASE
1. Paint Brush Appearance 2. Bouquet of Flower Appearance
45
COMPLICATIONS of MEDULLARY SPONGE DISEASE 🧠⚡DUtCH⚡
1. Distal RTA 2. Urinary STASIS 3. Calcium stasis 4. Hypocitraturia
46
Extra-Renal Manifestations of MEDULLARY SPONGE DISEASE
1. Caroli's DISEASE 2. HEMI-HYPERTROPHY 3. Congenital anomalies of URINARY TRACT
47
Cause of YOUNG ONSET HYPERTENSION
1. PCKD 2. RENAL ARTERY STENOSIS 3. PHEOCHROMOCYTOMA
48
⚡⚡ MOST COMMON CLINICAL FEATURE OF ADPKD
Hypertension ⬇️ Mass ⬇️ Pain ⬇️ Hematuria
49
Pain in ADPCKD is DUE TO:
✨ Hemorrhage inside CYSTS ✨ Renal CYSTS
50
Surgical MANAGEMENT of PCKD
1. Dialysis 2. Transplant 3. ROVSING PROCEDURE: Deroofing cyst is NOT Useful
51
ROVSING PROCEDURE
Deroofing cyst in ADPCKD
52
⚡⚡ MOST COMMON PRESENTATION OF MULTICYSTIC DYSPLASTIC KIDNEY
Abdominal LUMP at BIRTH
53
💊💉 MANAGEMENT of MULTICYSTIC DYSPLASTIC KIDNEY
Conservative ⬇️ Dialysis (OR) Transplant
54
MULTICYSTIC DYSPLASTIC KIDNEY is ASSOCIATED with
I/L Atresia of URETER

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