Medicine Flashcards

1
Q

Part of Nephron affected in Gitelmann Syndrome

A

DCT

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2
Q

which channel is affected in Gitelmann Syndrome

A

Sodium Chloride Channel
Mg+ Reabsorption through TRPM6 is affected

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3
Q

Part of Nephron affected in Barterr Syndrome

A

Thick Ascending Limb of Loop of Henle

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4
Q

Which channel is affected in Barterr Syndrome

A

Sodium Potassium Chloride Channel (NKCC)

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5
Q

Type of Inheritance in Gitelmann and Barterr Syndrome

A

Autosomal Recessive

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6
Q

Symptoms seen in Gitelmann Syndrome

A

failure to thrive
Salt wasting
Dehydration
Sunken eyeball/ Ant. Fontanelle
Polyuria
Mg Wasting - Decrease PTH release - Tetany

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7
Q

Symptoms seen in Barterr Syndrome

A

Failure to thrive
Salt wasting
Polyhydroamnios
Dehydration
Decreased Calcium Absorption - Hypercalciuria

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8
Q

Work up of Gitelmann Syndrome

A

Na+/K+ values - Decreased
24 hr Urinary Chloride - increases
Serum Mg+ - Decreases
Urinary Osmolality - Decreases

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9
Q

Work up of Barterr Syndrome

A

Serum Na+/K+ - Decreased
24 hr Urinary Chloride - Increases
Serum Mg+ - Normal
24 hr Urinary Ca+2 - Increased

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10
Q

Type of Metabolic Syndrome seen in Gitelmann and Barterr Syndrome

A

Hypokalemic Metabolic Alkalosis

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11
Q

Barterr syndrome also can be associated with

A

SNHL - similar kind of Cl- channels are present in Ear

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12
Q

Barterr syndrome also can be associated with

A

SNHL - similar kind of Cl- channels are present in Ear

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13
Q

Defect in Liddle Syndrome

A

Gain of Function of ENaC - Decreased Aldosterone and Renin

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14
Q

Defect in Liddle Syndrome

A

Gain of Function of ENaC - Decreased Aldosterone and Renin

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15
Q

Metabolic Syndrome seen in Liddle Syndrome

A

Hypokalemic Metabolic Alkalosis

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16
Q

Hypokalemic Metabolic Alkalosis seen in

A

Bilateral adrenal Hyperplasia/ Conn’s Syndrome
Cushing Syndrome
CHPS/Healed PUD/ Cancer of Stomach - Chronic Vomiting (Chloride Responsive Alkalosis)
Ascites - CHF/Cirrhosis/Nephrotic
Barterr, Gitelmann and Liddle Syndrome

17
Q

Hypokalemic Metabolic Alkalosis seen in

A

Bilateral adrenal Hyperplasia/ Conn’s Syndrome
Cushing Syndrome
CHPS/Healed PUD/ Cancer of Stomach - Chronic Vomiting (Chloride Responsive Alkalosis)
Ascites - CHF/Cirrhosis/Nephrotic
Barterr, Gitelmann and Liddle Syndrome

18
Q

Type of Renin Hypertension in Liddle Syndrome

A

Low Renin Hypertension

19
Q

Treatment of Liddle Syndrome

A

Potassium Sparing Diuretics - Amiloride or Triamterene - Both works by blocking ENaC channels

20
Q

Most common cause of SIADH

A

CNS infections - Cerberal Toxoplasmosis, Meningitis, Encephalitis, Brain abscess

21
Q

Other causes of SIADH

A

Ectopic Source - Carcinoid Tumor(Kulchitsky cell Tumor), Oat Cell cancer of Lung
Drugs - Vincristine, Chlorpromazine, Haloperidol
Multiple sclerosis

22
Q

Most common area affected in Medullary Sponge kidney

A

Restricted to medullary region of Kidney
Cystic dilatation of Collecting duct

23
Q

Most common area affected in Medullary Sponge kidney

A

Restricted to medullary region of Kidney
Cystic dilatation of Collecting duct

24
Q

Clinical Features of Medullary Sponge kidney

A

Recurrent Renal stones
Recurrent UTI
Recurrent Hematuria
Polyuria
Anaemia

25
Q

Clinical Features of Medullary Sponge kidney

A

Recurrent Renal stones
Recurrent UTI
Recurrent Hematuria
Polyuria
Anaemia

26
Q

Investigation of Choice in Medullary Sponge kidney and Finding

A

Intravenous Pyelography - Paint Brush Appearance, Bouquet of Flowers appearance

27
Q

Investigation of Choice in Medullary Sponge kidney and Finding

A

Intravenous Pyelography - Paint Brush Appearance, Bouquet of Flowers appearance