Interesting Case Presentation

1. Interesting Case presentation
BARTTER
SYNDROME
Dr.Manoj Prabhakar,
Resident,
Dept of Paediatrics.

2. • Deviga
• 5 months.

3. Case Details
• This is a first born child to a NCM married
couple who belong to an ethnic Tamil
community hailing from Cuddalore district in
Tamil Nadu.
• This child has been in regular follow-up in our
hospital for the past 1 month. Initially child
was admitted as a case of Failure to Thrive
associated with Bronchopneumonia.

4. Contd..
• During routine investigations child was found
to have electrolyte imbalance – Hypokalemia,
Hyponatremia and Hypochloremia
• VBG was done and showed a picture of
Metabolic Alkalosis.
• Electrolyte correction was done and child was
discharged further.

5. • Child was again readmitted in the hospital – had
Metabolic Alkalosis ( VBG : Ph-7.71 ; Pco2-31 ;
Po2 – 37 ; Hco3-40)
with Hypochloremia, Hypokalemia and
Hyponatrmia.
Na – (112-125-129-133-136)
K - (3.3 - 3.2 - 3.2 - 4.1 - 5.6)
• Child had multiple episodes of vomiting.
• Plasma Renin Activity was done and the report
showed high values (>500 MIU/ml).
Contd..

6. Differential diagnosis considered
were
•Bartter Syndrome
•Cystic Fibrosis with
excessive Na & Cl loss
( Pseudo Bartter )

7. Bartter Syndrome
• Bartter syndrome is a group of disorders
characterized by hypokalemic metabolic
alkalosis with hypercalciuria and salt wasting.
• Autosomal recessive disorder.

8. Types
Antenatal Bartter syndrome (types I, II, and IV)
Perinatal onset includes.
- Maternal polyhydramnios,
- Neonatal salt wasting,
- Severe episodes of recurrent dehydration.

9. Types
Classic Bartter syndrome (type III) :
• Manifests in childhood
• Failure to thrive
• History of recurrent episodes of dehydration.

10. PATHOGENESIS
• The biochemical features of Bartter syndrome,
hypokalemic metabolic alkalosis with
hypercalciuria.
• Reflecting a defect in sodium, chloride, and
potassium transport in the ascending loop of
Henle.

11. CLINICAL MANIFESTATIONS
• A history of maternal polyhydramnios with or
without prematurity.
• Dysmorphic features
[triangular facies, protruding ears, large eyes
with strabismus, and drooping mouth]
may be present on physical examination.

12. CLINICAL MANIFESTATIONS
• Blood pressure is usually normal.
• Serum chemistry reveals the classic
biochemical abnormalities of a hypokalemic
metabolic alkalosis.
• Serum Renin levels are often markedly
elevated.

13. • Nephrocalcinosis, resulting from
hypercalciuria, may be seen on ultrasound
examination.

14. DIAGNOSIS
The diagnosis is suggested by :
• Severe hypokalemia, usually <2.5 mmol/L,
with metabolic alkalosis.
• Hypercalciuria is typical
• Hypomagnesemia (seen in minority of the
patients)

15. Gitelman Syndrome
• AKA “Bartter syndrome variant”
• A phenotypically related disease.
• AR cause of hypokalemic metabolic alkalosis,
with distinct features of hypocalciuria and
hypomagnesemia.
• Typically present in late childhood or early
adulthood.

16. Points against for Bartter Syndrome:
• Child had decreased urine output during the
episodes.
• Electrolyte imbalance improving with IV
Fluids.
• No e/o polyuria in hospital.
• Hence first D/D considered is
“Cystic Fibrosis with Pseudo Bartter
Syndrome.”

17. Pseudo-Bartter's syndrome in Cystic
Fibrosis
• Cystic fibrosis is usually considered in the
differential diagnosis of metabolic alkalosis, as
most children present with either respiratory
or gastrointestinal symptoms.
• The biochemical hallmark of both Bartter's
and Pseudo-Bartter's syndrome is abnormally
low plasma electrolyte concentrations.

18. Important Differences
• In Bartter's syndrome, the sweat electrolyte
profile is normal but the renal handling of
electrolytes is defective.
• In Cystic Fibrosis, sweat electrolyte loss is
increased, and intensive reabsorption occurs
in the renal tubules.

19. • Sweat Chloride test – Normal Values.
• Samples for Genetic Mutation test for this
child to R/O Cystic Fibrosis was sent to
AIIMS,New Delhi.
Other Investigations

20. TREATMENT AND PROGNOSIS
• Treatment of Bartter syndrome is directed at
preventing dehydration, maintaining
nutritional status, and correcting
hypokalemia.
• Potassium supplementation, often at very
high doses, is required.

21. • Indomethacin, a prostaglandin inhibitor, can
also be effective.
• If hypomagnesemia is present, magnesium
supplementation is required.
• With close attention to electrolyte balance,
volume status, and growth, the long-term
prognosis is generally good.

22. Conclusion
• In children presenting with metabolic alkalosis
and abnormally low serum electrolytes, cystic
fibrosis should be included in the differential
diagnosis.
• Pseudo-Bartter's syndrome should be
considered in children with Cystic Fibrosis who
are failing to thrive despite conventional
treatment.

23. Thank You