Case report

Nephrology Division

GITELMAN SYNDROME

Nadya. A.r. Bubakar

Pediatric Department
Medical Faculty
Hasanuddin University
 INTRODUCTION

GITELMAN SYNDROME
Characterized by
hypokalemic metabolic
alkalosis and combination
Familial hYpokalemia-
with significant Autosomal recessive
hypomagnesemia
hypomagnesemia and low
urinary calcium excretion.
(Blanchard, 2017)
 Prevalence is estimated around 1: 40.000

Symptoms don’t appear before the age of 6 years

Diagnosis during adolescence or adulthood

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 Clinical Symptoms

Diagnosis Biochemical abnormality

(hypokalemia, metabolic
alkalosis,
hypomagnesemia and
hypocalciuria)

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 CASE REPORT
• PATIENT IDENTITY
• Name : An. KDU
• Medical record : 81-90-54
• Date of birth : 20-08-2004
• Age : 14 years
• Gender : Female
• Weight : 31.5 kg
• Height : 151 cm
• Admission date in ER : 20-08 -2019
• Address : BTN Citra Manggali
permai

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   Father Mother

Name M M

Age 44 years 45 years

Education High school High school

Occupation Employee Employee

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 Anamnesis

The patient complained of vomiting experienced 10 days before

being admitted to the hospital. The frequency of vomiting more
than 3 times / day, the contents of the food and greenish color
and not projectile vomiting. There was weakness in both legs
since 1 day before hospitalization. No fever, no seizures. No
cough, no shortness of breath. The patient was lazy to eat and
drink. Defecate with normal bowel movement, yellow urination
with enough volume impression.

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History of fever for 1 day at 4 days before hospitalization and down after given heat-
lowering drugs.
History of patients often feel thirsty, fatigue, frequently urinate at night.
3-day treatment history of Bahagia Hospital with hypokalaemia and acute kidney
failure and got treatment KCL 7.4%
A history of being treated at Wahidin Hospital in 2017 with the same complaint and
diagnosed with hypokalemia with potassium 1.5 mmol / L, with the results of a CT
scan of the abdominal gall bladder sludge accompanied by cholelithiasis.
History of family members with the same complaint is the sister of the patient's
mother who often experience hypokalemia.

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 PHYSICAL EXAMINATION

General condition: Severe illness, malnutrition, fully concious

Vital signs: blood pressure 100/60 mmHg, RR 32 / m, HR 85 / m, and temperature 37.4 oo C.

Thorax: xylophone ribs

Lungs and hearts are normal

Abdomen: not distended, no hepatosplenomegaly

Extremities : Wasting

Normal physiological reflexes, Pathological reflexes are absent

Motoric
5 5
4 4
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 Anthropometry
Body Weight (BW) • : 31,5 kg
Height (H) • : 151 cm
Head circumference • : 54 cm (Normal 52-58cm)
chest circumference • : 71 cm
Abdominal circumference • : 55 cm
BW/H • : 73,8% (Undernourished)
H/A • : 95,1% (Normal stature)

BW/A • : 59,4% (Severly underweight)

Nutritional status • : Malnutrition/ Normal stature

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 Supporting Investigation

Blood Chemistry (12-5-2019)

Routine blood count (12-5-2019)
Hb 13,3 gr/dl, leukocytes 18.600
mm3, PLT 456.000 mm3, HCT 40%,
RBG 104 mg/dl.
Ureum 39 mg/dl, creatinin
1,19 mg/dl, SGOT 48 ng/dl, SGPT
47 ng/dl, Albumin 4,0 g/dl,
Natrium 132 mmol/L, Kalium 1,7
mmol/L, chloride107 mmol/L.

Urinalysis ( 13/5/2019)
Yellow color, SG <1.005, negative
protein, negative glucose,
negative ketone, negative nitrite,
negative leukocyte.

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DIAGNOSIS
Cholelithiasis
Hypokalemia
Hyponatremia
Leukocytosis
Nutritional marasmus
Inferior paraparesis

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 Bolus Kcl 7.4% 24 meq in
dextrose 5% in 8 hours

Infusion KAEN 3B 1720 ml /

24 hours

Management of
malnutrition stabilization
phase day 1

Treatment Ceftriaxone 2 gram / 24

hours / intravenously

Ondansetron 7 mg / 8
hours / intravenously

Multivitamin

Consult to the nutrition and

neurology division

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 • Complaints: There is a weakness in the inferior
limb

• Ureum 37 mg/dl, creatinin 1,45 mg/dl, SGOT 89

ng/dl, SGPT 57 ng/dl, Natrium 129 mmol/L, Kalium
1,6 mmol/L, Chloride 103 mmol/L

Day 2 of • Abdominal USG 13/5/2019:

• Bilateral hydronephrosis
• Continue treatment
treatment • Consult to Nephrology Division

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USG ABDOMEN

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• Day 3 of treatment
• S: no weakness in
inferior extremity
• MSCT scan Urography:
• Cholelitiasis
• Minimal bilateral
callectasis e.c distended
vesica urinaria and
hydronephrosis
MSCT scan Urografi
• Spina bifida os sacrum

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Day 8 of Treatment

No chieft Compalian
Leukosit 17.430, Ureum 12, creatinin 0,52, SGOT 73l, SGPT 129, Alakali fosfatase n544 U/L(N<240),
calcium 7,9mg/dl(N), magnesium 1,92(N), Natrium 133(N), Kalium 2,2,
Ft4 1,45(N), Tshs 2,62(N)
Normal Xray Thoraks
Normal ECG

Assesment:
Kolelitiasis
Hipokalemia
Hiponatremia
Leukositosis
Nutritional marasmus
Hidronefrosis bilateral

Planning:
Koreksi kalium dengan kcl 7,4%, Urdafalk 250 mg/8jam/oral,
Other therapies are continued

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 ECG
X-ray Thorax PA Position

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• 11thth day of treatmet Complaints:
nothing
Laboratory:
• Leukocytes 14.770,
• Ureum 24, creatinine 0,9, SGOT 32,
• SGPT 31, Sodium 135, Potassium 2.0.
• Therapy is continued Day 14 care
Complaints: nothing
Laboratory: Urine Calcium 76.3 mg / 24
hours (N 100-320)
Diagnosis: Gittelman syndrome
Therapy: KSR and urdafalk. Management of
malnutrition and Outpatients

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Definitive diagnosis
• Gitelman syndrome
• Bilateral hydronephrosis
• Acute kidney injury
• Cholelithiasis
• Hypokalemia
• Hyponatremia
• Leukocytosis
• Nutritional marasmus
• Inferior paraparese
• Increased trans aminase
enzymes
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 • • PROGNOSIS
PROGNOSIS
• • Qua
QuaAdAdvitam
vitam: bonam
: bonam
• • Qua
QuaAdAdsanationam
sanationam: bonam
: bonam
• • Qua
QuaAdAdfungsionam
fungsionam: bonam
: bonam

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 Discussion

Hypokalemia, a state of sodium loss due to

hypomagnesemia, recessive tubulopathy
hypocalciuria, metabolic abnormalities in children or
alkalosis and hypaldosteronism. young adults

Gitelman
Syndrome

gene mutations that encode 25 cases per one million

sodium chloride cotransporters population
and magnesium thiazide-sensitive
channels in the distal segment. 1 to 10 per 40,000
 This patient is a
female patient with
initial symptoms
appearing when the
patient is 12 years
old

Family history of the same disease,

the aunt of the patient but not
examined for genetic analysis
because there is no genetic
examination.

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 Mutasi melibatkan gen
SLC12A3, yang
kelainan tubular resesif
mengkode sensitif
autosom
thiazide NaCl
cotransporter (NCCT).

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 Pathophysiology

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 Clinical manifestations

Severe constipation,
neuromuscular polyuria and
nocturia. hypocalciuria,
symptoms such as
hypomagnesemia,
muscle weakness, in young adults increased thirst with
hypokalemia and
paresthesias, cramps abnormal appetite.
metabolic alkalosis
and tetany episodes stomach ache,
or paralysis In this patientand
vomiting there are clinical
fever
symptoms of vomiting, weakness in
inferior extremity and constipation as
well as a history of fever, fatigue,
thirst, frequent urination especially at
night.

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 Diagnosis

In patients diagnosed based on clinical conditions

with investigations that is found the presence of
recurrent hypokalemia, hyponatremia and the
presence of hypocalciuria.

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 TREATMENT

Supplements of sodium,
potassium and Targets for potassium Dosage will be titrated
magnesium 3.0 mmol / l and individually (side effects
Supportive magnesium 0.6 mmol / l vs symptoms)
management

Avoid using drugs that

are associated with
Periodic follow up
hypokalemia and
hypomagnesemia

Supportive management such as treatment of hypokalaemia with KCL 7.4%

and KSR as well as administration of antibiotics for leukocytosis and other
supportive management like management of malnutrition and
ursodeoxycholic acid for cholestasis. For follow-up, patients are advised to
periodic control in outpatient care
Differential Diagnosis
 Prognosis

The poor prognosis of severe

hypokalemia is susceptible to
Generally apart from that the The prognosis of this patient
cardiac arrhythmias, when it
prognosis of GS patients is is bonam
is associated with
BONAM
hypomagnesemia and
alkalosis.
 SUMMARY

One case of GS has been reported in girls aged 14

years. Diagnosis is based on clinical symptoms, physical
examination, radiology and laboratory finding.
Handling of patients is symptomatic, supportive and
after 14 days of treatment the patient's condition
improves and the patient is outpatient. The prognosis
for Qua ad vitam bonam and Qua ad sanationem
bonam.

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