DR.G.BALAJI PROF.DR.G.SUNDARAMURTHY’S unit-  M6
<ul><li>40 year male presented with weakness of both lower limbs of 4 hours duration. </li></ul><ul><li>Sudden onset, invo...
<ul><li>No h/o trauma, back pain, fever , myalgia. </li></ul><ul><li>No h/o  diarrhoea, vomiting, abdominal pain. </li></u...
<ul><li>Past history: </li></ul><ul><li>Not a case of DM, SHT, IHD, PT, Bronchial asthma. </li></ul><ul><li>No h/o drug in...
Acute paraparesis <ul><li>Guillain- Barre syndrome </li></ul><ul><li>Cns-  </li></ul><ul><li>para sagittal meningiomas </l...
<ul><li>Spinal lesions- </li></ul><ul><li>Compressive lesions- ivdp, tumour abscess or hematoma, malignancy. </li></ul><ul...
<ul><li>Cauda equina lesions: </li></ul><ul><li>Trauma, mid line disc herniation, intra spinal tumour- sphincter is affect...
examination <ul><li>Pt conscious, oriented, afebrile </li></ul><ul><li>Obeys commands. </li></ul><ul><li>Not dyspneic or t...
<ul><li>CVS: S1, S2 heard. No murmurs. </li></ul><ul><li>RS: NVBS. No added sounds </li></ul><ul><li>P/A: soft non tender,...
Central nervous system <ul><li>Higher functions : </li></ul><ul><li>Pt is conscious, oriented to time, place and person. <...
<ul><li>Motor system  </li></ul><ul><li>upper limb  right  left- amputated  </li></ul><ul><li>Bulk  normal  </li></ul><ul>...
<ul><li>Lower limbs  right  left </li></ul><ul><li>Bulk  normal  normal </li></ul><ul><li>Tone  reduced  reduced </li></ul...
<ul><li>No axial muscle weakness </li></ul><ul><li>SENSORY SYSTEM </li></ul><ul><li>Touch,Pain , temperature  : present  <...
<ul><li>Cerebellum ; </li></ul><ul><li>Upper limbs: no cerebellar signs </li></ul><ul><li>Lower limbs; could not be examin...
<ul><li>Problems </li></ul><ul><li>(Apparent) paraparesis of sudden onset- hours </li></ul><ul><li>Areflexia in lower limb...
<ul><li>AIDP- Guillain Barre syndrome </li></ul><ul><li>Channelopathies- Hypokalemic periodic paralysis </li></ul>
Investigations <ul><li>CBC: </li></ul><ul><li>Hb- 14.5 g </li></ul><ul><li>TC- 5400 </li></ul><ul><li>DC: P- 64, L-36 </li...
<ul><li>Urine routine-  </li></ul><ul><li>Albumin- nil </li></ul><ul><li>Sugar- nil, </li></ul><ul><li>deposits- nil </li>...
<ul><li>ELECTROLYTES: </li></ul><ul><li>Sodium: 137 meq/l </li></ul><ul><li>Potassium- 1.3 meq/l </li></ul><ul><li>Chlorid...
diagnosis <ul><li>Hypokalemia  -?cause </li></ul>
<ul><li>Treatment </li></ul><ul><li>IV Potassium- 20 meq of KCl. </li></ul><ul><li>Oral KCl- 25 ml/ hr. </li></ul><ul><li>...
<ul><li>HYPOKALEMIA: </li></ul><ul><li>REDUCED INTAKE </li></ul><ul><li>RENAL WASTING - most common cause </li></ul><ul><l...
Hypokalemia   <ul><li>plasma K+ concentration <3.5 mmol/L, </li></ul><ul><li>CAUSES: </li></ul><ul><li>I. Decreased intake...
<ul><li>  II. Redistribution into cells    </li></ul><ul><li>A. Acid-base     </li></ul><ul><li>1. Metabolic alkalosis ( 1...
<ul><li>C. Anabolic state  (D/T K+ shift into  newly formed cells)   </li></ul><ul><ul><li>1. Vitamin B12 or folic acid  (...
<ul><li>  D. Other    </li></ul><ul><ul><li>1. Pseudo hypokalemia  </li></ul></ul><ul><ul><li>2. Hypothermia  </li></ul></...
pseudohypokalemia   <ul><li>Prevented storing the blood sample on ice or rapidly separating the plasma from the cells. </l...
<ul><li>III. Increased loss    </li></ul><ul><li>A. Non renal     </li></ul><ul><ul><ul><li>1. Gastrointestinal loss  (1.d...
<ul><li>B. Renal </li></ul><ul><li>1.Increased distal flow :  </li></ul><ul><li>diuretics </li></ul><ul><li>osmotic diures...
<ul><li>2. Increased secretion of potassium      </li></ul><ul><li>I. Mineralocorticoid excess:   </li></ul><ul><li>Primar...
<ul><li>Apparent Mineralocorticoid excess  (licorice, chewing tobacco, carbenoxolone) …cortisol occupies the aldosterone r...
<ul><li>II. Distal delivery of non-reabsorbed anions:   </li></ul><ul><li>vomiting …HCO3 in urine </li></ul><ul><li>nasoga...
<ul><li>III. Other: </li></ul><ul><li>Amphotericin B …( ^ distal nephron K+ permeability) </li></ul><ul><li>Liddle's syndr...
Genetic disorders  <ul><li>Hypokalemic periodic paralysis  </li></ul><ul><li>Bartter's syndrome  </li></ul><ul><li>Gitelma...
APPROACH TO HYPOKALEMIA HYPOKALEMIA urine potassium < 25 mEq/day urine potassium >30 mEq/day
Urinary conservation +
Urinary conservation -
 
Lab values <ul><li>Sodium-134 meq </li></ul><ul><li>Potassium- 1.46 meq </li></ul><ul><li>Chloride- 84.3 meq </li></ul><ul...
<ul><li>USG ABDOMEN- </li></ul><ul><li>normal sized kidneys. </li></ul><ul><li>CMD Present. </li></ul><ul><li>Normal echoe...
ABG 1 st  day 2 nd  day PH 7.52 7.48 HCO3 32.6 36.6 PCO2 40.5 50.1 PO2 80.4 74 ANION GAP 13.5  10.3 SO2 97 95.4
<ul><li>THYROID: </li></ul><ul><li>T3 -125.82 </li></ul><ul><li>T4-9.68 </li></ul><ul><li>TSH-1.472. </li></ul><ul><li>ENT...
<ul><li>24 HR urine excretion- </li></ul><ul><li>sodium- 322meq (100-260) </li></ul><ul><li>Potassium-144 meq  (25-100) </...
<ul><li>Hypokalemia- 1.4 meq </li></ul><ul><li>Metabolic alkalosis : ph- 7.54 </li></ul><ul><li>Normal calcium- 9.3 meq </...
 
Final diagnosis <ul><li>Bartter’s syndrome- </li></ul><ul><li>Type- 111 </li></ul>
BARTTER’S SYNDROME <ul><li>Autosomal recessive </li></ul><ul><li>Fn of  thick ascending LOH  affected </li></ul><ul><li>In...
Bartter’s syndrome types <ul><li>Type I  : mutation in the gene for Na K 2Cl cotrasporter (NKCC2) + on the apical membrane...
<ul><li>Type V  : Gain of function mutation in the CaSR gene … + with Hypocalcemia </li></ul><ul><li>…. First four types a...
 
Clinical features <ul><li>Present in antenatal period  </li></ul><ul><li>or in neonates( III can + in early childhood) </l...
<ul><li>Systemic features include fever, vomiting, diarrhea +…  </li></ul><ul><li>Probably all are d/t PG mediation  </li>...
Biochemical abnormalities <ul><li>Hypokalemic metabolic alkalosis </li></ul><ul><li>Hyperreninemic hyperaldosteronism </li...
Nephrocalcinosis + + +- + + - Polyhydramnios + + + + - - FTT + + + + - - Growth Retardation + + + + - - Polyuria + + + + +...
Treatment <ul><li>Restore plasma K to about 3.5 mmol/l  </li></ul><ul><li>K+ supplementation / Spironolactone / Amiloride ...
Differential diagnosis <ul><li>1.Gitelman’s syndrome </li></ul><ul><li>( Differentiated by Hypocalciuria + : Hypomagnesaem...
 
American journal of medicine : vol 61: issue 1 :1985   <ul><li>A patient with Bartter's syndrome in whom the disease was r...
<ul><li>Adult onset Bartter diagnosed at the age of   40 yrs </li></ul><ul><li>Korean journal of medicine : vol 10 : numbe...
<ul><li>Male who had not been diagnosed as Bartter syndrome type IV until  28 yr   because of a mild clinical manifestatio...
<ul><li>Deaf daughter of consanguineous parents, who was referred for the first time at the  age of 20 , because of refrac...
<ul><li>Thank you </li></ul>
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A Case of Bartter's Syndrome

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  • ypoklaemia
  • A Case of Bartter's Syndrome

    1. 1. DR.G.BALAJI PROF.DR.G.SUNDARAMURTHY’S unit- M6
    2. 2. <ul><li>40 year male presented with weakness of both lower limbs of 4 hours duration. </li></ul><ul><li>Sudden onset, involving both lower limbs simultaneously. </li></ul><ul><li>He feels the limbs are lifeless. </li></ul><ul><li>No h/o involvement of upper limbs, trunk muscles, neck muscles. </li></ul><ul><li>No h/o any sensory disturbances. </li></ul><ul><li>No bowel or bladder disturbances. </li></ul>
    3. 3. <ul><li>No h/o trauma, back pain, fever , myalgia. </li></ul><ul><li>No h/o diarrhoea, vomiting, abdominal pain. </li></ul><ul><li>No h/o dysuria, hematuria, oliguria. </li></ul><ul><li>No h/o headache , blurring of vision, syncope attacks, seizures </li></ul><ul><li>no h/o chest pain cough, dyspnea, palpitations, hemoptysis. </li></ul><ul><li>No h/o any heavy meals.,exercise </li></ul>
    4. 4. <ul><li>Past history: </li></ul><ul><li>Not a case of DM, SHT, IHD, PT, Bronchial asthma. </li></ul><ul><li>No h/o drug intake , fever, diarrhoea. </li></ul><ul><li>No similar episodes in the past. </li></ul><ul><li>Left upper limb amputated above elbow following a trauma. </li></ul><ul><li>Personal history: </li></ul><ul><li>Alcohol consumer. last consumption 5 days ago. </li></ul><ul><li>No h/o smoking, drug addiction, extra marital , or premarital affairs. </li></ul>
    5. 5. Acute paraparesis <ul><li>Guillain- Barre syndrome </li></ul><ul><li>Cns- </li></ul><ul><li>para sagittal meningiomas </li></ul><ul><li>Anterior cerebral artery ischemia </li></ul><ul><li>Superior sagittal or cortical venous thrombosis </li></ul><ul><li>Acute hydrocephalus </li></ul><ul><li>Spinal cord </li></ul><ul><li>Intra spinal lesion in mid thoracic level </li></ul>
    6. 6. <ul><li>Spinal lesions- </li></ul><ul><li>Compressive lesions- ivdp, tumour abscess or hematoma, malignancy. </li></ul><ul><li>Vascular- spinal cord infarction, av fistula, </li></ul><ul><li>Transverse myelitis. </li></ul><ul><li>( no sensory loss or upper level of lesions.) </li></ul>
    7. 7. <ul><li>Cauda equina lesions: </li></ul><ul><li>Trauma, mid line disc herniation, intra spinal tumour- sphincter is affected. </li></ul><ul><li>Anterior horn cell disease- polio </li></ul><ul><li>Guillain- Barre syndrome </li></ul><ul><li>Myopathy. </li></ul><ul><li>Periodic paralysis </li></ul>
    8. 8. examination <ul><li>Pt conscious, oriented, afebrile </li></ul><ul><li>Obeys commands. </li></ul><ul><li>Not dyspneic or tachypneic. </li></ul><ul><li>No Icterus/ cyanosis/ clubbing/ pedal edema/ lymph node enlargement. </li></ul><ul><li>Pulse: 80/ min regular, normal volume and character. All peripheral pulses felt equally in all 4 limbs. </li></ul><ul><li>BP: 110/70 mm Hg in RUL. </li></ul><ul><li>RR: 14 /min , abdomino thoracic. </li></ul>
    9. 9. <ul><li>CVS: S1, S2 heard. No murmurs. </li></ul><ul><li>RS: NVBS. No added sounds </li></ul><ul><li>P/A: soft non tender, </li></ul><ul><li>No organomegaly, no free fluid. </li></ul><ul><li>No mass. </li></ul>
    10. 10. Central nervous system <ul><li>Higher functions : </li></ul><ul><li>Pt is conscious, oriented to time, place and person. </li></ul><ul><li>Speech intact. </li></ul><ul><li>Memory normal. </li></ul><ul><li>CRANIAL NERVES : </li></ul><ul><li>Normal. </li></ul>
    11. 11. <ul><li>Motor system </li></ul><ul><li>upper limb right left- amputated </li></ul><ul><li>Bulk normal </li></ul><ul><li>Tone normal </li></ul><ul><li>Power 4/5 </li></ul><ul><li>Reflexes: </li></ul><ul><li>DTR biceps + </li></ul><ul><li>triceps + </li></ul><ul><li>supinator + </li></ul><ul><li>Superficial abdominal + </li></ul>
    12. 12. <ul><li>Lower limbs right left </li></ul><ul><li>Bulk normal normal </li></ul><ul><li>Tone reduced reduced </li></ul><ul><li>Power 1/5 1/5 </li></ul><ul><li>Reflexes </li></ul><ul><li>knee absent absent </li></ul><ul><li>Ankle absent absent </li></ul><ul><li>Plantar no response no response </li></ul>
    13. 13. <ul><li>No axial muscle weakness </li></ul><ul><li>SENSORY SYSTEM </li></ul><ul><li>Touch,Pain , temperature : present </li></ul><ul><li>Vibration, joint position: present. </li></ul><ul><li>Cortical sensation: intact. </li></ul><ul><li>Spinal vibration: present </li></ul>
    14. 14. <ul><li>Cerebellum ; </li></ul><ul><li>Upper limbs: no cerebellar signs </li></ul><ul><li>Lower limbs; could not be examined. </li></ul><ul><li>GAIT: </li></ul><ul><li>Could not be examined. </li></ul><ul><li>Skull and spine – NORMAL. </li></ul><ul><li>SPINAL VIBRATION – present at all levels </li></ul>
    15. 15. <ul><li>Problems </li></ul><ul><li>(Apparent) paraparesis of sudden onset- hours </li></ul><ul><li>Areflexia in lower limbs </li></ul><ul><li>Bowel and bladder : not involved </li></ul><ul><li>Sensations- intact. </li></ul><ul><li>No spinal tenderness. </li></ul><ul><li>No signs of increased ICT. </li></ul>
    16. 16. <ul><li>AIDP- Guillain Barre syndrome </li></ul><ul><li>Channelopathies- Hypokalemic periodic paralysis </li></ul>
    17. 17. Investigations <ul><li>CBC: </li></ul><ul><li>Hb- 14.5 g </li></ul><ul><li>TC- 5400 </li></ul><ul><li>DC: P- 64, L-36 </li></ul><ul><li>ESR- 6/12 </li></ul><ul><li>PCV: 42% </li></ul><ul><li>Platelets- 1.5 lakhs. </li></ul><ul><li>RFT: </li></ul><ul><li>UREA- 26 mg </li></ul><ul><li>Creatinine- 1.1 mg </li></ul>
    18. 18. <ul><li>Urine routine- </li></ul><ul><li>Albumin- nil </li></ul><ul><li>Sugar- nil, </li></ul><ul><li>deposits- nil </li></ul><ul><li>Pus cells- nil </li></ul><ul><li>Chest X-RAY: normal </li></ul><ul><li>ECG - flat P wave, U wave, prolonged QT interval. </li></ul>
    19. 19. <ul><li>ELECTROLYTES: </li></ul><ul><li>Sodium: 137 meq/l </li></ul><ul><li>Potassium- 1.3 meq/l </li></ul><ul><li>Chloride- 88 meq/l </li></ul><ul><li>Bicarbonate- 33 meq/l </li></ul>
    20. 20. diagnosis <ul><li>Hypokalemia -?cause </li></ul>
    21. 21. <ul><li>Treatment </li></ul><ul><li>IV Potassium- 20 meq of KCl. </li></ul><ul><li>Oral KCl- 25 ml/ hr. </li></ul><ul><li>Patient regained power in lower limbs. </li></ul><ul><li>Reflexes returned. </li></ul><ul><li>Pt was able to walk. </li></ul>
    22. 22. <ul><li>HYPOKALEMIA: </li></ul><ul><li>REDUCED INTAKE </li></ul><ul><li>RENAL WASTING - most common cause </li></ul><ul><li>TRANS CELLULAR SHIFT. </li></ul>
    23. 23. Hypokalemia <ul><li>plasma K+ concentration <3.5 mmol/L, </li></ul><ul><li>CAUSES: </li></ul><ul><li>I. Decreased intake  ( Seldom a sole cause for K+ depletion)  </li></ul><ul><ul><ul><li>A. Starvation </li></ul></ul></ul><ul><ul><ul><li>B. Clay ingestion (Geophagia – binds dietary K+ and Fe) </li></ul></ul></ul>
    24. 24. <ul><li>  II. Redistribution into cells    </li></ul><ul><li>A. Acid-base     </li></ul><ul><li>1. Metabolic alkalosis ( 1.K+ redistribution into cell 2.Excess renal loss)    </li></ul><ul><li>B. Hormonal     </li></ul><ul><li>1. Insulin (Stimulation of Na H antiporter and secondary activation of NA K ATP ase pump) </li></ul><ul><li>2. beta-Adrenergic agonists (1.Directly induces cellular uptake of K+ 2.Stimulates insulin secretion) </li></ul><ul><li>3. alpha-Adrenergic antagonists </li></ul>
    25. 25. <ul><li>C. Anabolic state  (D/T K+ shift into newly formed cells)   </li></ul><ul><ul><li>1. Vitamin B12 or folic acid ( RBC production) </li></ul></ul><ul><ul><li>2. Granulocyte-macrophage colony stimulating factor (white blood cell production) </li></ul></ul><ul><ul><li>3. Total parenteral nutrition   </li></ul></ul>
    26. 26. <ul><li>  D. Other    </li></ul><ul><ul><li>1. Pseudo hypokalemia </li></ul></ul><ul><ul><li>2. Hypothermia </li></ul></ul><ul><ul><li>3. Hypokalemic periodic paralysis (Calcium Channelopathy) </li></ul></ul><ul><ul><li>4. Barium toxicity </li></ul></ul>
    27. 27. pseudohypokalemia <ul><li>Prevented storing the blood sample on ice or rapidly separating the plasma from the cells. </li></ul><ul><li>e.g., acute myeloid leukemia </li></ul><ul><li>…..low measured plasma K+ concentration d/t white blood cell uptake of K+ at room temperature </li></ul>
    28. 28. <ul><li>III. Increased loss    </li></ul><ul><li>A. Non renal     </li></ul><ul><ul><ul><li>1. Gastrointestinal loss (1.diarrhea – per se loss of K+)…profuse diarrhea, villous adenomas, VIP oma, laxative abuse 2.Vomitting - mainly d/t ^ renal K+ excretion caused by volume depletion and metabolic alkalosis) </li></ul></ul></ul><ul><ul><ul><li>2. Integumentary loss (sweat ) (ECF contraction…Aldosterone secretion ) </li></ul></ul></ul>
    29. 29. <ul><li>B. Renal </li></ul><ul><li>1.Increased distal flow : </li></ul><ul><li>diuretics </li></ul><ul><li>osmotic diuresis </li></ul><ul><li>salt-wasting nephropathies </li></ul>
    30. 30. <ul><li>2. Increased secretion of potassium      </li></ul><ul><li>I. Mineralocorticoid excess: </li></ul><ul><li>Primary hyperaldosteronism (ca, Conn's , hyperplasia)… low plasma renin activity </li></ul><ul><li>Secondary hyperaldosteronism (1.malignant hypertension, 2.renin-secreting tumors –RCC, Ovarian Ca, Wilm’s tumor, 3.renal artery stenosis, 4.hypovolemia)… Hyperreninemia </li></ul><ul><li>Bartter's s .. (Na K 2 Cl pump mutation…Volume depletion…hyperaldosteronism…K+ secreted </li></ul>
    31. 31. <ul><li>Apparent Mineralocorticoid excess (licorice, chewing tobacco, carbenoxolone) …cortisol occupies the aldosterone receptor for action…cortisol to cortisone does not occur d/t 11 beta HSDH deficiency/inhibition …– low renin and aldosterone </li></ul><ul><li>Congenital adrenal hyperplasia ( D/T non aldosterone Mineralocorticoids – corticosterone, deoxycorticosterone) </li></ul><ul><li>Cushing's s .. (cortisol formed overwhelms the activity of 11 beta HSDH) </li></ul>
    32. 32. <ul><li>II. Distal delivery of non-reabsorbed anions: </li></ul><ul><li>vomiting …HCO3 in urine </li></ul><ul><li>nasogastric suction </li></ul><ul><li>proximal (type 2) renal tubular acidosis </li></ul><ul><li>diabetic ketoacidosis …Beta OH butyrate </li></ul><ul><li>glue-sniffing (toluene abuse) …Hippurate </li></ul><ul><li>penicillin derivatives …(1.Secrete K+; 2. Osmotic diuresis)   </li></ul>
    33. 33. <ul><li>III. Other: </li></ul><ul><li>Amphotericin B …( ^ distal nephron K+ permeability) </li></ul><ul><li>Liddle's syndrome … (ENaC up regulation in CCD…negative Electrical gradient in lumen…H+ & K+ secretion) </li></ul><ul><li>Hypomagnesaemia …(Resistant to treatment) </li></ul>
    34. 34. Genetic disorders <ul><li>Hypokalemic periodic paralysis </li></ul><ul><li>Bartter's syndrome </li></ul><ul><li>Gitelman's syndrome </li></ul><ul><li>Liddle's syndrome </li></ul><ul><li>Apparent mineralocorticoid excess </li></ul><ul><li>Glucocorticoid-remediable hyperaldosteronism </li></ul>
    35. 35. APPROACH TO HYPOKALEMIA HYPOKALEMIA urine potassium < 25 mEq/day urine potassium >30 mEq/day
    36. 36. Urinary conservation +
    37. 37. Urinary conservation -
    38. 39. Lab values <ul><li>Sodium-134 meq </li></ul><ul><li>Potassium- 1.46 meq </li></ul><ul><li>Chloride- 84.3 meq </li></ul><ul><li>Bicarbonate- 33.2 meq </li></ul><ul><li>Serum calcium- 9.3 meq </li></ul><ul><li>Magnesium- 2.0 mg </li></ul><ul><li>Urine specific gravity- 1.030 </li></ul>
    39. 40. <ul><li>USG ABDOMEN- </li></ul><ul><li>normal sized kidneys. </li></ul><ul><li>CMD Present. </li></ul><ul><li>Normal echoes. </li></ul><ul><li>X- RAY KUB </li></ul><ul><li>No evidence of any calculus. </li></ul>
    40. 41. ABG 1 st day 2 nd day PH 7.52 7.48 HCO3 32.6 36.6 PCO2 40.5 50.1 PO2 80.4 74 ANION GAP 13.5 10.3 SO2 97 95.4
    41. 42. <ul><li>THYROID: </li></ul><ul><li>T3 -125.82 </li></ul><ul><li>T4-9.68 </li></ul><ul><li>TSH-1.472. </li></ul><ul><li>ENT opinion- normal . </li></ul><ul><li>No hearing loss. </li></ul><ul><li>LFT: </li></ul><ul><li>Serum proteins- 6.3 gms </li></ul><ul><li>Albumin- 4.3 gms </li></ul><ul><li>Globulins-2.0 gms </li></ul>
    42. 43. <ul><li>24 HR urine excretion- </li></ul><ul><li>sodium- 322meq (100-260) </li></ul><ul><li>Potassium-144 meq (25-100) </li></ul><ul><li>Chloride- 516.6 meq ( 110-250) </li></ul><ul><li>Calcium-418.6 mgm (<300 mg/day) </li></ul>
    43. 44. <ul><li>Hypokalemia- 1.4 meq </li></ul><ul><li>Metabolic alkalosis : ph- 7.54 </li></ul><ul><li>Normal calcium- 9.3 meq </li></ul><ul><li>Normal magnesium- 2.o meq </li></ul><ul><li>Normal blood pressure- 110/70 mm HG. </li></ul><ul><li>URINE chloride-516 meq </li></ul><ul><li>Urine potassium-144 meq </li></ul>
    44. 46. Final diagnosis <ul><li>Bartter’s syndrome- </li></ul><ul><li>Type- 111 </li></ul>
    45. 47. BARTTER’S SYNDROME <ul><li>Autosomal recessive </li></ul><ul><li>Fn of thick ascending LOH affected </li></ul><ul><li>Inactivating mutations of one of 4 genes encoding membrane proteins (Types I to IV) </li></ul><ul><li>Gain of function mutation in extracellular Ca ion sensing receptor (CaSR)… variant of Bartter presenting with Hypocalcemia (AD inheritance) </li></ul>
    46. 48. Bartter’s syndrome types <ul><li>Type I : mutation in the gene for Na K 2Cl cotrasporter (NKCC2) + on the apical membrane of LOH </li></ul><ul><li>Type II : mutation in the gene for ATP regulated K channel (ROMK) </li></ul><ul><li>Type III : mutation in the basolateral voltage gated Cl channel (ClC – Kb) </li></ul><ul><li>Type IV : mutation in the BSND protein (barttin) that activates beta subunit for ClC Kb and ClC Ka . Associated with deafness </li></ul>
    47. 49. <ul><li>Type V : Gain of function mutation in the CaSR gene … + with Hypocalcemia </li></ul><ul><li>…. First four types are autosomal recessive : type V is autosomal dominant </li></ul>
    48. 51. Clinical features <ul><li>Present in antenatal period </li></ul><ul><li>or in neonates( III can + in early childhood) </li></ul><ul><li>Antenatal … </li></ul><ul><li>Polyhydramnios & Preterm labour </li></ul><ul><li>Postnatal … </li></ul><ul><li>Polyuria , Polydipsia ,Growth retardation , Dehydration , Nephrocalcinosis (universal in I & II ; only in 20% of III) , Muscle weakness , Fatigue </li></ul>
    49. 52. <ul><li>Systemic features include fever, vomiting, diarrhea +… </li></ul><ul><li>Probably all are d/t PG mediation </li></ul><ul><li>fever can be d/t dehydration </li></ul><ul><li>vomiting d/t hypokalemic paralytic ileus. </li></ul><ul><li>TYPE IV : Sensorineural deafness specific detected as early as 1 month of age : also CRF progression in childhood is common </li></ul>
    50. 53. Biochemical abnormalities <ul><li>Hypokalemic metabolic alkalosis </li></ul><ul><li>Hyperreninemic hyperaldosteronism </li></ul><ul><li>Normal blood pressure </li></ul><ul><li>Inappropriate urine excretion of K + </li></ul><ul><li>Inappropriate urine excretion of Cl – </li></ul><ul><li>Hypercalciuria </li></ul><ul><li>Normo magnesemia </li></ul><ul><li>Urinary PG ^ed in majority </li></ul><ul><li>Blunted response to loop diuretics </li></ul>
    51. 54. Nephrocalcinosis + + +- + + - Polyhydramnios + + + + - - FTT + + + + - - Growth Retardation + + + + - - Polyuria + + + + + - Polydipsia + + + + + - Muscle cramps/pain - - - - + +- Chondrocalcinosis - - - - - +- SN hearing loss - - - + - - Hypocalcemia - - - - + - FEATURES B I B II B III B IV B V GM
    52. 55. Treatment <ul><li>Restore plasma K to about 3.5 mmol/l </li></ul><ul><li>K+ supplementation / Spironolactone / Amiloride </li></ul><ul><li>PG inhibitor like indomethacin 2 mg/day in divided doses …in infants have reduced incidence of growth retardation </li></ul>
    53. 56. Differential diagnosis <ul><li>1.Gitelman’s syndrome </li></ul><ul><li>( Differentiated by Hypocalciuria + : Hypomagnesaemia +) </li></ul><ul><li>2.Vomiting </li></ul><ul><li>(Differentiated by Urinary Cl < 20 meq/L) </li></ul><ul><li>3.Abuse of loop diuretics </li></ul><ul><li>(H/O drug intake + or assaying the expected drugs in urine) </li></ul><ul><li>…. All are observed in older patients </li></ul>
    54. 58. American journal of medicine : vol 61: issue 1 :1985 <ul><li>A patient with Bartter's syndrome in whom the disease was recognized at 52 years of age has been described in…. </li></ul>
    55. 59. <ul><li>Adult onset Bartter diagnosed at the age of 40 yrs </li></ul><ul><li>Korean journal of medicine : vol 10 : number 4 :1995 </li></ul>
    56. 60. <ul><li>Male who had not been diagnosed as Bartter syndrome type IV until 28 yr because of a mild clinical manifestation. The patient also had congenital deafness . </li></ul>The Journal of Clinical Endocrinology & Metabolism : Vol. 88 : Number 2 : 2003
    57. 61. <ul><li>Deaf daughter of consanguineous parents, who was referred for the first time at the age of 20 , because of refractory hypocalcaemia </li></ul><ul><li>Antenatal polyhydramnios + </li></ul><ul><li>Polydipsia and polyuria. The patient's height and weight reached, respectively, 165 cm and 70 kg </li></ul>Oxford journal of medicine : vol 22 : number 1 : 2006
    58. 62. <ul><li>Thank you </li></ul>
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