THE LITMUS TEST Dr Jigna N Bathia Post
THE LITMUS TEST Dr Jigna N Bathia Post Graduate Trainee The Calcutta Medical Research Institute
PRESENTATION ON EXAMI • 4 mo old male child Weight : 3. 4 kg • Failure to thrive since 1 mo of age Irritable, marked dehydr • H/O polyuria, constipation BP: 80/50 mm Hg • Birth History: LSCS, birth weight : 3. 5 kg Systemic examination: W • Development appropriate for age Advised admission for resuscitation --- refused a
PAST HISTORY • Admitted outside one month earlier • Investigations Hb 9. 5 gm/d. L Urea 19 mg/d. L, Creatinine 0. 46 mg/d. L Sodium 126 mg/d. L, Potassium 2. 8. mg/d. L Calcium 5. 4 mg/d. L PTH 34. 1 pg/m. L ( 14 -65 pg/m. L) USG KUB : Suggestive of nephrocalcinosis
CURRENT INVESTIGATIONS • • Hb : 11. 9 gm/d. L Urea 33 mg/d. L, Creatinine 0. 26 mg/d. L Sodium: 128 mg/d. L , Potassium : 2. 5 mg/d. L Chloride: 88 mg/d. L Calcium 12. 7 mg/d. L , Phosphate 4. 7 mg/d. L Urine p. H: 6. 5, Glu nil, Prot trace Urine Na 50. 53 m. Eq/L , K 16. 98 mmol/L, Cl 61. 36 m. Eq/L Urine Ca 10 mg/d; Ca/Creat : 0. 5 ( <0. 14)
Polyuria, dehy dration, consti pation, Failure to thrive Hypercalciuria nephrocalcino sis Metabolic alkalosis Urinary
Polyuria, dehy dration, consti pation, Failure to thrive Metabolic alkalosis BARTTER SYNDROME Urinary wasting of Na, K, Cl hyponatremia hypokalemia
MANAGEMENT • ORS • Sodium supplements • KCl syrup • Plasma Renin Aldosterone levels • Genetic analysis • Plan to start Indomethacin
ON FOLLOW UP Weight 4. 5 kg Dehydration corrected More alert, active USG KUB: gross nephrocalcinosis • Serum Aldosterone : 64. 4 ng/d. L (6. 5 to 86) • Plasma Renin activity • • Day 12 of treatment Weight 4. 5 kg Sodium 136 Potassium 4. 2 Calcium 12 Phosphate 3. 9 Magnesium 2. 2 Chloride Urine Ca
USG KUB
THE CHANGE IN THE LITMUS TEST Repeat ABG • p. H: 7. 27 • p. CO 2 29. 8 • HCO 3 13. 4 • Serum Anion gap 12 • Urine Anion Gap 31
Polyuria, dehydration constipation, Failure to thrive Urinary wasting of Ca nephrocalcinosis NORMAL ANION GAP METABOLIC ACIDOSIS hypokalaemia
Polyuria, dehydration constipation, NORMAL ANION GAP METABOLIC ACIDOSIS Failure to thrive DISTAL RTA Urinary wasting of Ca nephrocalcinosis hypokalaemia
BARTTER SYNDROME • Failure to reabsorb chloride, sodium in TAL • Polyuria • ECF contraction • RAAS activation • Urinary loss of K, H • Hypokalemic • Metabolic alkalosis D • Failu • Com • Syste acido • Bone • Raise calci • Hype hypo • Raise in DC
HOW DOES IT EXPLAIN THE CHANGE IN THE LITMUS TEST • Thiazide diuretics inhibits thiazide sensitive Na-Cl cotransporter • Urinary loss of Na and Cl
GENETIC ANALYSIS • Q Why was d. RTA gene r significance • A: As one of the muta unreported. Addition of deafness w interpretation to like • Q: Was the CFTR gene m with early alkalosis? • CF can cause pseudobar • A: Unlikely since it is he
TREATMENT • K Citrate supplements • FURTHER Investigation planned: BERA Sweat chloride Final Diagnosis: d. RTA Early Bartters like feature thiazide administration
ON FOLLOW UP 7 months Weight 5. 1 kg Active Polyuria decreased, dehydration corrected • K Citrate to be titrated to maintain serum bicarbonate >22 and • •
TAKE HOME MESSAGE • Bartters Syndromes can present initially with acidosis, with typical alkalosis evol • But RTA presenting initially as Hyponatremic, Hypokalmic Hypochloremic Alkalo • Meticulous history taking with repeated re-evaluation of clinical and biochemica provides clues to the diagnosis n such puzzling cases. • Renal tubular disorders are often evolving in the first few months, and supportiv maintenance of fluid and electrolyte balance is the key –until a definitive diagno
THANK YOU
- Slides: 20