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Saudi J Kidney Dis Transpl 2016;27(5):1026-1028

© 2016 Saudi Center for Organ Transplantation Saudi Journal
of Kidney Diseases
and Transplantation

Case Report

Gitelman’s Syndrome Presenting with Hypocalcemic Tetany and

Hypokalemic Periodic Paralysis
Kunal Gandhi, Dharmendra Prasad, Vinay Malhotra, Dhananjai Agrawal

Department of Nephrology, Sawai Man Singh Hospital, Jaipur, Rajasthan, India

ABSTRACT. Gitelman’s syndrome is an autosomal recessive renal tubular disorder charac-

terized by hypomagnesemia, hypokalemia, hypocalciuria, and metabolic alkalosis. Hypocalcemic
tetany as a presentation of Gitelman’s syndrome has rarely been reported in literature. We report a
rare case of Gitelman’s syndrome presenting with hypocalcemic tetany along with hypokalemic
periodic paralysis. A 17-year-old female was admitted to our hospital with a history of perioral
numbness and carpal spasms of five days duration with progressive quadriparesis developing over
a period of few hours. Past history was significant for three episodes of transient lower limb
weakness. On examination, blood pressure was 110/70 mm Hg. Chvostek’s sign and Trousseau’s
sign were positive. Neurologically, she was fully oriented. She had Grade 3 power in all the four
limbs with intact sensation. Laboratory tests showed hypocalcemia (7.8 mg/dL), hypokalemia
(2.2 mEq/L), hypomagnesemia (0.9 mEq/L), and hypocalciuria (104 mg/day). Arterial blood gas
showed mild metabolic alkalosis with respiratory compensation. Thus, a clinical diagnosis of GS
was made. The patient made a remarkable recovery after the correction of electrolyte imbalance.
The aim of this case report is to re-emphasize the fact that hypocalcemia can rarely occur in
Gitelman’s syndrome.

Introduction mately 1 in 40,000.2 It most commonly pre-

Gitelman’s syndrome is an autosomal reces-
sive salt-losing renal tubulopathy which is
characterized by hypomagnesaemia, hypocal-
ciuria, and secondary aldosteronism, leading to
hypokalemia and metabolic alkalosis.1 The
prevalence of Gitelman’s syndrome is approxi-
Correspondence to:
Dr. Kunal Gandhi,
Department of Nephrology, Sawai Man Singh
Hospital, Jaipur, Rajasthan, India.
E-mail: kunalgandhi85@live.com
sents with muscle weakness, fatigue, and
characteristic electrolyte abnormalities. Serum
calcium levels are usually normal in Gitel-
man’s syndrome. However, there have been
few sporadic case reports describing hypo-
calcemia in Gitelman’s syndrome which were
attributed to disturbances in parathyroid hor-
mone (PTH) metabolism due to chronic hypo-
magnesemia.
Here, we present a case of a young girl pre-
senting with hypocalcemic tetany with con-
comitant hypokalemic periodic paralysis.
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Gitelman’s syndrome with tetany and paralysis
Case Report
A 17-year-old female presented to us with a
history of perioral numbness and carpopedal
spasms of one week duration followed by
progressive weakness of all the four limbs and
muscle cramps which developed over a period
of few hours. Past history was significant for
three episodes of transient lower limb weak-
ness in the past four years which were attri-
buted to hypokalemia that readily subsided
following giving her parenteral potassium
chloride; however, the cause of hypokalemia
was never investigated. There was no family
history of similar episodes. She denied any
history of drug use including diuretics or
laxative or self-medication. Birth history and
developmental milestones were unremarkable.
On physical examination, her blood pressure
was within normal range without postural
changes (110/70 mm Hg). Chvostek’s and
Trousseau’s signs were positive. Her clinical
and neurological examinations revealed Grade
3 quadriparesis without sensory loss. Higher
mental functions and cranial nerve examina-
tion were normal. Deep tendon reflexes were
normal. Other systemic examination was unre-
markable. Biochemical findings are shown in
Table 1. Arterial blood gas analysis showed
metabolic alkalosis: pH 7.56, HCO3 −29.5, and
Table 1. Biochemical findings.
Parameter
Serum sodium
Serum potassium
Serum chloride
Serum calcium
Serum phosphorous
Serum magnesium
Parathyroid hormone level
25 hydroxy Vitamin D
Urine
Volume
Sodium
Potassium
Magnesium
Calcium
Chloride
Calcium-to-creatinine ratio
Serum creatine kinase
1027
base excess +5.8. Complete blood picture,
erythrocyte sedimentation rate, random blood
glucose, serum creatinine, liver function tests,
thyroid profile, rheumatoid factor, C-reactive
protein, and anti-nuclear antibodies were with-
in normal limits. Ultrasound imaging of kid-
neys was normal. Urine pH was 7.5 and speci-
fic gravity was 1.010.
She was provisionally diagnosed as a case of
Gitelman’s syndrome based on her clinical and
biochemical findings.
Hypokalemia was treated with oral potassium
chloride solution of 40–100 mEq/L/day, divi-
ded into three doses. Hypocalcemia was ini-
tially treated with intravenous 10% calcium
gluconate over 10 min followed by an IV
infusion of 50 mL of 10% solution in 500 mL
normal saline over 4 h. Oral calcium supple-
mentation was started at a dose of 1000 mg of
elemental calcium daily. Hypomagnesemia was
treated with intravenous magnesium sulfate
administered 2 g 6 hourly with close moni-
toring of deep tendon reflexes followed by oral
magnesium salts. Spironolactone 100 mg in
two divided doses was also added. By day 3,
the patient’s symptoms had improved dramati-
cally. Serum potassium and magnesium levels
were corrected to 3.6 mEq/L and 1.9 mEq/L,
respectively. Serum calcium was corrected to
8.6 mg/dL.
Value (reference range)
141.0 (135–145 mmol/L)
2.2 (3.5–5.5 mmol/L)
97 (95–105 mmol/L)
7.8 (9.0–11.0 mg/dL)
2.45 (2.5–4.5 mg/dL)
0.97 (1.8–2.4 mg/dL)
4.9 (4.7–114 pg/mL)
35 (30–100 ng/mL)
2800 mL
187 (40–220 mEq/24 h)
47.9 (25–125 mEq/24 h)
164 (70–130 mg/24 h)
104 (420–550 mg/24 h)
225 (140–240 mEq/24 h)
<0.2
1697 (20–200 U/L)
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1028
Discussion
Differential diagnosis for muscle weakness
and tetany is large. On initial presentation, we
kept the possibility of electrolyte disturbance,
thyroid disorder, and inflammatory muscle
disease, channelopathy, Vitamin D deficiency,
and hypoparathyroidism. We investigated our
patient according to our differential diagnosis.
Investigations revealed that the patient had
normal thyroid function, normal creatinine
phosphokinase, normal 25 hydroxy Vitamin D,
and parathyroid hormone (PTH) level. Based
on the findings of hypokalemia, hypomagne-
semia, hypocalcemia, and metabolic alkalosis,
we narrowed our differential diagnosis to
Barter or Gitelman’s syndrome. Subsequently,
urine finding revealed hypocalciuria and thus,
a diagnosis of Gitelman’s syndrome was
made. Because of the unavailability of genetic
testing, we could not confirm our diagnosis,
which was the limitation of this case. Bartter’s
syndrome or Gitelman’s syndrome should be
considered in differential diagnosis in patients
presenting with hypomagnesemia, hypokalemia,
and metabolic alkalosis. Gitelman’s syndrome
is an inherited autosomal recessive, renal tu-
bular disorder caused by inactivating mutation
in the SLC12A3 gene that encodes the thia-
zide-sensitive sodium chloride cotransporter.3
This condition is characterized by hypoka-
lemic metabolic alkalosis, hypomagnesemia,
and hypocalciuria.4 GS is almost always asso-
ciated with severe hypomagnesemia in 100%
of the cases. Usually, serum calcium levels are
normal in Gitelman’s syndrome, and tetany is
due to hypomagnesemia.5 Because of the pre-
sence of concomitant hypocalcemia, we also
considered BS in the differential diagnosis
since mild hypomagnesemia is present in 20–
30% cases of Barter syndrome, possibly due to
loss of transepithelial difference across ascen-
ding loop of Henle.5 However, hypocalciuria in
our patient was more suggestive of Gitelman’s
syndrome.
Gandhi K, Prasad D, Malhotra V, et al
Hypocalcemia in this patient in spite of
hypocalciuria could be explained due to either
decreased PTH secretion secondary to persis-
tent hypomagnesemia or end organ resistance
to Vitamin D and PTH.6
Conclusion
Through this case report, we want to re-
emphasize Gitelman’s syndrome as a diffe-
rential diagnosis in patients presenting with
hypokalemic tetany, and a correct interpre-
tation of laboratory tests could be instrumental
in excluding the other causes of hypocalcemia.
Conflict of interest: None declared.
References
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