1. A CASE OF ADULT ONSET BARTTER’S SYNDROME
DEPARTMENT OF NEPHROLOGY
GOVT.RAJAJI HOSPITAL,
MADURAI MEDICAL COLLEGE

2. 25 year old male who is a known smoker, alcoholic, admitted with sudden onset weakness of both legs for 1 day.
Patient was apparently normal one day before admission, he had sudden onset symmetric weakness of both lower limb which progressed to involve both upper limb.
H/o difficulty in using both upper and lower limb
H/o difficulty in raising hand above head and mixing food
H/o difficulty to stand from squatting position and holding slippers
H/o strenuous exercise the day before weakness
No H/o of difficulty in lifting head from pillow

3. No H/o involuntary micturition or defecation
No H/o fever / seizure / altered sensorium
No H/o blurring of vision /difficulty in opening eyes
No H/o breathing difficulties
No H/o suggestive of sensory system/ autonomic system involvement
No H/o vomiting / diarrhoea
No H/o palpitation / tremor
No H/o animal bite

4. PAST HISTORY:
Patient had similar episode in past- 1ST episode 6 months back and 2ND episode 3 months back- for which he got treated in local GH. Further evaluation was not done. Treatment records were not available.
FAMILY HISTORY:
No other family member had similar complaints.
Patient was born to non consanguineous marriage
DRUG HISTORY:
No H/o suggestive of intake of any diuretics, insulin, antibiotics

5. GENERAL EXAMINATION:
Conscious
Oriented
No pallor / cyanosis / clubbing
Not icteric
No pedal edema / lymphadenopathy

6. VITALS;
BLOOD PRESSURE- 110/70 mmHg
PULSE RATE- 94/MIN
RESPIRATORY RATE-20/MIN
Single breath count-26

7. Systemic examination:
CNS
Higher function examination- normal
Cranial nerve examination- normal
Spinomotor system examination:
R L
BULK NORMAL NORMAL
TONE U/L HYPOTONIA HYPOTONIA
L/L HYPOTONIA HYPOTONIA

8. R L POWER U/L 1/5 1/5 L/L 1/5 1/5 HAND GRIP 50% 50% NO NECK MUSCLE WEAKNESS REFLEXES: SUPERFICIAL REFLEX PRESENT PRESENT

9. PLANTAR REFLEX DEEP TENDON REFLEX RIGHT LEFT BICEPS 1+ TRICEPS
SUPINATOR
KNEE
ANKLE
PLANTAR REFLEX
FLEXOR

10. SENSORY SYSTEM EXAMINATION- NORMAL
CEREBELLAR SYSTEM EXAMINATION-
NO NYSTAGMUS/ DYSARTHRIA
COORDINATION COULD NOT BE TESTED
SPINE AND CRANIUM EXAMINATION- NORMAL
NO SIGNS OF MENINGEAL IRRITATION

11. CVS- S1S2+
NO MURMUR
RS- B/L AIR ENTRY
NO ADDED SOUND
ABDOMEN- SOFT
NO ORGANOMEGALY

12. Recurrent Quadriplegia
Plantar flexor
No neck muscle weakness
Normal BP
H/O strenuous exercise
sensory system normal
Normal bladder sensation

13. INVESTIGTION RBS-100mg/dl UREA-42mg/dl CREATININE-0.8 mg/dl
TC-5200 cells/cumm
DC- N60/L31/M9
HB g%
PCV-36%

14. ECG- 100/min, normal axis, U wave SODIUM - POTASSIUM - (mmol/L)
URINE K mEq/L (SPOT)
11/04
16/04
27/04
30/04
146
140
142
143
1.7
3.89
2.49
2.77

15. URINE PH- 6.5
URINE OSMOLALITY- 223 mosm/kgH2O
SERUM OSMOLALITY- 303 mosm/kgH2O
TTKG= Urine k+/serum K+ divided by urine osmolality/serum osmolality
TTKG-5.33

16. SERUM MAGNESIUM- 2.O mg/dl
URINE CHLORIDE-111 mmol/L
URINE SODIUM- 45 mEq/L
URINE CALCIUM mg/dl
URINE CREATININE mg/dl
URINE Ca/Cr RATIO-0.311

17. ABG CT ABDOMEN- Normal study USG- normal studyPH
7.46
HCO3
25.4
PCO2
37.3
Na+
146 K+
2.84
CT ABDOMEN- Normal study
USG- normal study
TFT – normal (TSH-1.2 microIU/L)

18. Flaccid acute quadriplegia Normal BP Hypokalemia TTKG-5
Flaccid acute quadriplegia Normal BP Hypokalemia TTKG-5.33 (renal loss of potassium) URINE Ca/Cr RATIO (hypercalciuria) Normal serum magnesium Metabolic alkalosis

20. Clinical findings and lab investigations points towards ADULT ONSET- BARTTER’S SYNDROME.
Patient was treated with syrup kcl.
Patient’s power improved and was discharged.

21. PSEUDO HYPOKALEMIA RULED OUT
URINE K+
24.20 mg/dl
TTKG
5.33
BLOOD PRESSURE
NORMAL
ACID BASE STATUS
METABOLIC ALKALOSIS

22. URINE Cl-
111 mmol/L
URINE Ca/Cr
0.311
BARTTER’S SYNDROME

23. THANK YOU

24. BARTTER’S SYNDROME Autosomal recessive Prevalence is 1 in 1 million
Salt losing tubulopathy of frusemide type
Affects thick ascending loop of henle
BP is normal due to salt wasting and renal release of prostacyclin, prostaglandin E2.
Hypercalciuria due loss of lumen positive voltage gradient- necessary for paracellular absorbtion of calcium

25. Abnormal proteins involved are
Type 1- NKCC2 COTRANSPORTER
Type2- ROMK CHANNEL
Type3- CLC-Kb CHANNEL
Type4- BARTTIN
Type5- CaSR

27. TYPE 3 (CLASSICAL BARTTER’S SYNDROME)
TYPE 1 AND 2 (ANTENATAL-NEONATAL BARTTER AND HYPERPROSTAGLANDIN E SYNDROME)
Most severe form
Maternal polyhydramnios, premature birth, severe dehydration, failure to thrive and growth retardation.
Nephrocalcinosis occurs
TYPE 3 (CLASSICAL BARTTER’S SYNDROME)
Manifest later in childhood or adolescent age group
Muscle weakness, cramps, fatigue, constipation
Nephrocalcinosis doesnot occur

28. TYPE 5 (HYPOCALCEMIA WITH BARTTER’S SYNDROME)
TYPE 4 (ANTENATAL BARTTER’S SYNDROME WITH DEAFNESS)
Affects gene, BARTTIN, which regulates chloride channels ClC-Ka and ClC-Kb; both are also present in inner ear
TYPE 5 (HYPOCALCEMIA WITH BARTTER’S SYNDROME)
Associated with hypoparathyroidism
Due to gain of function mutation of CaSR

30. In the kidney, loop and thiazide diuretics are secreted from the proximal tubule via the organic anion transporter-1 (OAT1) and exert their diuretic action by binding to the Na-K-2Cl cotransporter type 2 (NKCC2) in the thick ascending limb and the Na-Cl cotransporter (NCC) in the distal convoluted tubule, respectively.
Downstream from the primary site of diuretic action, an increase in epithelial Na+ channel (ENaC) abundance is induced by chronic furosemide or hydrochlorothiazide treatment.so there is increased Na+ absorption in distal tubular segments.
The abundance of NKCC2 and NCC is increased by furosemide and hydrochlorothiazide, respectively.
This compensatory upregulation suggests that either diuretic may activate the ion transporter within the primary site of action. In the proximal tubule, the abundance of OAT1 is increased by chronic treatment with furosemide or hydrochlorothiazide.