BARTER SYNDROME

Presented By:-
Muhammad Rehan
 LEARNING OBJECTIVES:-
◦ At the end of lecture, you will be able to learn about:-
◦ Barter syndrome.
◦ Sign and symptoms of barter syndrome.
◦ Pathophysiology of barter syndrome.
◦ Diagnostic findings of barter syndrome.
◦ Medical management of this syndrome.
◦ Nursing management of barter syndrome.
◦ Complications of barter syndrome.
 DEFINITION
◦ It is inherited disease characterized by defect in thick
ascending limb of loop of Henle that affects absorption of
salts in loop of Henle.
◦ It is autosomal recessive disease.
 TYPES OF BARTER SYNDROME

◦ 1:- Neonatal:-
◦ It occurs between 24 to 30 weeks of
gestation with excess amniotic fluid .
◦ Infant is seen to excessive urinate and polydipsia
◦ Hypercalciuria .
◦ Nephrocalcinosis.
 CONTINUE…

◦ 2:-Classic:-
◦ The symptoms occurs in first two years of life.
Symptoms:-
◦ Polyuria , polydipsia, dehydration.
◦ Growth retardation
◦ End stage of kidney failure
 CLINICAL MANIFESTATIONS:
Nephrocalcinosis Failure to thrive (weight
◦ Polyhydroamnios loss)
◦ Hypokalemia • Polyhydroamnios
◦ Dehydration
◦ Sensorineural deafness
◦ Polyuria
◦ Polydipsia
 PATHOPHYSIOLOGY:-
◦ The mutations involved Na,k,cl co-transport results in salts
and water Malabsorption.
◦ Activation of renin- angiotensin system.
◦ Renal vasoconstriction due to angiotensin 2 and
hypokalaemia.
◦ Increase in prostaglandins E.
◦ Hypernatremia + Hyperaldosteronism.
◦ Barter Syndrome.
 CONTINUE…

◦ Genetic:-
◦ Autosomal recessive
◦ Prognosis:
◦ Can slowly progress to interstitial fibrosis resulting in
chronic renal failure.
 DIAGNOSTIC FINDINGS:

◦ Inc. plasma renin & aldosterone.

◦ 24 hr urinary Calcium level.
◦ 24 hr Serum electrolyte
◦ Urine osmolality
◦ 24 hr urinary chloride.
◦ Serum magnesium.
◦ Genetic Profiling
 MEDICAL MANAGEMENT:-

◦ NSAIDS.
◦ Indomethacin (drug of choice)
◦ It is CoX-1 Inhibitors that Dec. Excessive
prostaglandins.
◦ Salts supplements.
◦ Diuretic to treat hypokalaemia.
 NURSING MANAGEMENT:-

◦Genetic counselling
◦Balance electrolytes
◦Restrain from Alcohol
◦Take potassium rich fruits (citrus fruits, orange,
grapes, banana).
 COMPLICATIONS:-
◦ Cardiac arrhythmias
◦ Recessive mutations in gene type 1 SLC12A1
◦ Paralysis
◦ rhabdomyolysis
CHILD WITH RHABDOMYOLYSIS
Any Questions❓
 References
◦ Wong’s essential of pediatric