AN INTERESTING CASE OF MUSCLE WEAKNESS - GITELMAN'S SYNDROME

1. MEDICINE UNIT 2
Prof. S. RAMASAMY
Prof. P.CHITRAMBALAM
Dr. PRASANNA KARTHIK
Dr. SARAVANAN ( P.G)

2.  45 year old male, daily wage labourer from
Sriperumbadur
 Acute onset of progressive weakness and inability to
use both the upper and lower limbs since the
morning of day of admission

3.  Patient was apparently normal till the previous night
and went to bed without any complaints
 In early morning when he got up, he noticed that he
had a mild weakness in both his upper and lower
limbs
 He found it difficult to grip objects in his hand and he
had difficulty in walking

4.  As the day progressed, he found that the weakness
worsened and he could not lift his hands or his feet
 He characteristically complained of inability to lift his
head and see things
 He had no double vision or other cranial nerve
symptoms

5.  No h/o sensory disturbances
 No h/o bladder or bowel involvement
 No h/o any trauma
 No h/o any drug intake
 No h/o fever
 No h/o any vaccination
 No h/o dog bite

6.  No h/o similar episodes in the past
 Not a known case of type 2 DM, Systemic
Hypertension , Bronchial asthma, Epilepsy ,
Jaundice

7.  Alcoholic, consumes about 180 ml/day for the last 20
years
 Smoker, using at least 1pack of beedis everyday

8.  No history of similar complaints in the family
members

9.  Moderately built and moderately nourished
 Extremely emaciated
 General examination was unremarkable
 No external signs of dehydration
 No thyroid swelling

10.  PULSE: 86/min, regular in rhythm and normal
volume
 BP :100/80 mm Hg RUL, Supine
 No orthostatic hypotension
 Respiratory rate 36/min, shallow respiratory effort
 SINGLE BREATH COUNT : 15

11.  HIGHER MENTAL FUNCTIONS
 Conscious, coherent, oriented
 Memory and intellect appears normal
 Language intact
 No hallucinations or delusions
 CRANIAL NERVES
 Clinically intact

12.  No obvious wasting made out
 Hypotonia in all 4 limbs
 Power
 Upper Limbs : Proximal > Distal
 Lower Limbs : Proximal > Distal
 Bilateral Plantar no response
 DTR depressed

13. • Sensory system appeared intact
• No nystagmus or diplopia
• CVS : NAD
• RS: Clear
• ABD: Soft, no organomegaly

14.  45 year old normotensive, non diabetic male
admitted with acute onset of progressive
quadriparesis of 12 hours duration with no similar
episodes in the past. On examination, he was
conscious, oriented and hemodynamically stable.
He had bilateral weakness of upper and lower
limbs with predominant involvement of proximal
group of muscles with depressed reflexes. His
sensory system was uninvolved.

15.  ACUTE FLACCID PARALYIS
 ? HYPOKALEMIC PARALYSIS
 ? GUILLAIN BARRE SYNDROME

16.  COMPLETE BLOOD COUNTS– NORMAL
 RBS-168mg/dl
 Blood urea- 30mg/dl
 Serum creatinine- 1.0mg/dl
 Serum electrolytes
 Sodium 138 mEq/L
 Potassium 2.8 mEq/L ( LOW)
 Chloride 94 meq/l
 Calcium – 10.6 mg%
 ECG- showing features of hypokalemia
 Chest Xray – normal study
 Thyroid profile – normal
 Ultra sonography- normal study

17.  24hrs urinary electrolytes-
1. Sodium 322 mEq/L (100-260)
2. Potassium 144 mEq/L(25-100)
3. Chloride 516.6 mEq/L (110-250)
 Serum osmolarity = 2x (sodium)+blood
urea/5.4+RBS/18 = 290 mosm
 urine osmolarity = 2x(sodium+potassium)+urine
urea/5.4 =1839 mosm/l

18. pH : 7.49
HCO3 : 27.18 mmol/l
PaCO2 :42.0 mm Hg
Pa02 : 80.6 mm Hg
SaO2 : 96 %
Na+ : 138 mmol
K+ : 2.69mmol
Cl - : 96 mmol
INTERPREATION:
Metabolic Alkalosis with Respiratory compensation

19.  Neurology opinion:
 Features suggestive of Hypokalemic paralysis –
Recovering
 Nephrology Opinion
 Suggested the following investigations for further
evaluation
 ABG analysis
 24 hrs urine electrolytes

20. Features suggestive of
GITLEMAN SYNDROME

21.  Decreased intake
 Redistribution into cells
 Extra-renal loss
 Renal loss

22.  Urinary potassium: 24 hour values better than
spot specimens.
 ABG values
 Blood pressure measurements.
 A history.

24. HYPOKALEMIA
urine potassium < 15 mEq/day urine potassium >15 mEq/day

25.  Urine potassium is 144 meq ( 25-100 ) suggestive of a
renal loss

26.  What is TTKG ?
 What does it assess?
 What are the prerequisites?

27.  TTKG is the ratio of potassium concentration in the
lumen of CCD to that in peritubular capillaries.
 Asseses the net driving force of potassium excretion
 Urine osmolarity should exceed that of plasma
osmolarity inorder to calculate an interpretable TTKG

28.  TTKG = Uk x Posm
Sk x Uosm
 During hypokalemia -TTKG should fall <3 -
indicating appropriately reduced urinary excretion
of K
 TTKG > 4 – indicates renal K loss is due to
increased distal K secretion
 TTKG- 8.1 ( in our case)

29.  The patient is a NORMO TENSIVE( 100/70 mm of hg)

30. urine potassium < 15 mEq/day
Metabolic acidosis
Acid base status
Normal acid base
• Profound sweating
• Prolonged decreased Intake
• Vomiting, NG suction Lower GI loss

31. urine potassium >15 mEq/day
Metabolic alkalosis Normal acid base Metabolic acidosis
Acid base status
•Post ATN/ post obstructive diuresis
•Osmotic diuresis
•Decreased magnesium ions
•High dose penicillin
•Polydipsia/ diabetes insipidus
•Type 1 RTA
•Type 2 RTA
•DKA
•Amphotericin B
•acetazolamide

32. ABG 8/6/2014 10/6/2014
PCO2 42.15mm hg 41.82mm hg
pH 7.47 7.49
K+ 2.01mmol/l 2.97mmol/l
HCO3 27.18mmol/l 26.76mmol/l
Metabolic alkalosis

34.  URINE CHLORIDE – 516MEQ (> 20)
 NEXT STEP MEASURE Urinary calcium/ creatinine
ratio
 Urinary calcium /creatinine ratio =0.026 ( <0.15)

35.  Potassium is being lost in the urine.
 Primary aldosteronism is ruled out by normal blood
pressures.
 ABG rules out renal tubular acidosis.
 Diuretic abuse ruled out by history

36. GITELMAN’S SYNDROME

37.  AUTOSOMAL RECESSIVE DISORDER
 PRESENTS IN LATE CHILDHOOD OR
ADULTHOOD
 HYPOKALEMIA
 METABOLIC ALKALOSIS
 HYPOMAGNESEMIA
 HYPOCALCIURIA
 NORMAL BLOOD PRESSURE
 CLINIACL MANIFESTATIONS LESS
PRONOUNCED IN HETEROZYGOTES

38.  Cramps of arms and legs which may be severe due
to hypokalemia and hypomagnesimia
 Fatigue
 Polyuria and nocturia
 Chondrocalcinosis related to chronic severe
hypomagnesemia

39.  Mutations in the gene coding for the thiazide
sensitive Na-Cl co-transporter in distal tubule NCCT,
SLC12A3.

40.  Life long treatment as tubular defect cannot be
corrected
 Treatment aimed at minimising the effects of
secondary increase in renin and aldosterone
production
 Correcting electrolyte abnormalities
 Potassium sparing diuretics are better than
potassium suplementation.
 Spiranolactone> amiloride
 Potassium and magnesium supplementation

42.  Decreased intake: kidney can conserve to 5-25
mEq K+ daily; normal intake 40-120 daily.
 Shift into cells:
 Alkalosis
 Insulin
 Beta adrenergic stimuli
 Stress
 Beta agonists- e.g.: albuterol, ritodrine

43.  Hypokalemic periodic paralysis- typically oriental
men with thyrotoxicosis; ? abnormal Ca++ channel;
? Increased Na/K ATPase activity.
 Increased RBC uptake, e.g. after treatment with B12,
folate.

45.  Gastric juice contains 5 – 10 mEq K+/L.
 Intestinal fluids contain 20 – 50 mEq/L

46.  Loss of hydrogen ion increases plasma
bicarbonate.
 Coexisting volume depletion increases
aldosterone secretion.
 Increased delivery of bicarbonate to the distal
nephron obligates a cation. In the setting of
increased aldosterone levels, sodium is retained
and potassium excreted.
 Potassium loss is most prominent early.
 Actual losses in gastric juice are relatively small.

47.  Diarrheal losses are usually accompanied by
metabolic acidosis
 Villous adenoma
 Laxative abuse

48.  Nearly all potassium filtered at the glomerulus is
reabsorbed in the proximal nephron. Urinary
potassium is the result of distal potassium
secretion.
 To excrete potassium, the kidney requires an
adequate number of nephrons, aldosterone, and
a circulation adequate to provide adequate distal
delivery of sodium for sodium/potassium
exchange.

49.  Diuretics- activate the renin-angiotensin-
aldosterone cascade.
 Primary aldosteronism/increased steroids.
 Presentation of a non-resorbable anion distally,
obligating a cation, which will lead to increased
potassium excretion in the presence of
aldosterone.
 Bicarbonate
 Penicillin derivatives
 Betahydroxybutyrate

50.  Renal tubular acidosis
 Proximal, especially with therapy
 Some distal types
 Type IV RTA patients are typically hyperkalemic
• Hypomagnesemia
• Polyuria