Medicine Flashcards
Part of Nephron affected in Gitelmann Syndrome
DCT
which channel is affected in Gitelmann Syndrome
Sodium Chloride Channel
Mg+ Reabsorption through TRPM6 is affected
Part of Nephron affected in Barterr Syndrome
Thick Ascending Limb of Loop of Henle
Which channel is affected in Barterr Syndrome
Sodium Potassium Chloride Channel (NKCC)
Type of Inheritance in Gitelmann and Barterr Syndrome
Autosomal Recessive
Symptoms seen in Gitelmann Syndrome
failure to thrive
Salt wasting
Dehydration
Sunken eyeball/ Ant. Fontanelle
Polyuria
Mg Wasting - Decrease PTH release - Tetany
Symptoms seen in Barterr Syndrome
Failure to thrive
Salt wasting
Polyhydroamnios
Dehydration
Decreased Calcium Absorption - Hypercalciuria
Work up of Gitelmann Syndrome
Na+/K+ values - Decreased
24 hr Urinary Chloride - increases
Serum Mg+ - Decreases
Urinary Osmolality - Decreases
Work up of Barterr Syndrome
Serum Na+/K+ - Decreased
24 hr Urinary Chloride - Increases
Serum Mg+ - Normal
24 hr Urinary Ca+2 - Increased
Type of Metabolic Syndrome seen in Gitelmann and Barterr Syndrome
Hypokalemic Metabolic Alkalosis
Barterr syndrome also can be associated with
SNHL - similar kind of Cl- channels are present in Ear
Barterr syndrome also can be associated with
SNHL - similar kind of Cl- channels are present in Ear
Defect in Liddle Syndrome
Gain of Function of ENaC - Decreased Aldosterone and Renin
Defect in Liddle Syndrome
Gain of Function of ENaC - Decreased Aldosterone and Renin
Metabolic Syndrome seen in Liddle Syndrome
Hypokalemic Metabolic Alkalosis
Hypokalemic Metabolic Alkalosis seen in
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
Hypokalemic Metabolic Alkalosis seen in
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
Type of Renin Hypertension in Liddle Syndrome
Low Renin Hypertension
Treatment of Liddle Syndrome
Potassium Sparing Diuretics - Amiloride or Triamterene - Both works by blocking ENaC channels
Most common cause of SIADH
CNS infections - Cerberal Toxoplasmosis, Meningitis, Encephalitis, Brain abscess
Other causes of SIADH
Ectopic Source - Carcinoid Tumor(Kulchitsky cell Tumor), Oat Cell cancer of Lung
Drugs - Vincristine, Chlorpromazine, Haloperidol
Multiple sclerosis
Most common area affected in Medullary Sponge kidney
Restricted to medullary region of Kidney
Cystic dilatation of Collecting duct
Most common area affected in Medullary Sponge kidney
Restricted to medullary region of Kidney
Cystic dilatation of Collecting duct
Clinical Features of Medullary Sponge kidney
Recurrent Renal stones
Recurrent UTI
Recurrent Hematuria
Polyuria
Anaemia
