Abstract
Background: Gitelman syndrome (GS) is an autosomal recessive inherited salt-losing tubulopathy resulted from a loss-of-function mutation in the gene SLC12A3 encoding the thiazide-sensitive sodium-chloride cotransporter (NCCT) protein located in the distal renal tubules. Investigations revealed hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria and increased activity of renin-angiotensin-aldosterone system. There have been very few case reports on Gitelman syndrome in pregnancy, and some cases showed adverse consequences of the fetus.Case presentation: We presented a case report of a pregnant female with hypokalemia, a large amount of intravenous potassium was required to maintain a relatively normal level of serum potassium.Therefore, further laboratory examinations and whole blood DNA sequencing were carried out. The patient was eventually diagnosed with Gitelman syndrome. In terms of treatment, the amount of potassium supplementation was gradually reduced, and magnesium supplementation was intermittently provided at the same time to maintain the patient's serum potassium at about 3.0mmol/L and serum magnesium at about 0.8mmol/L. Obstetric ultrasound during hospitalization indicated normal fetal development, and the patient was discharged from hospital after her condition improved.Conclusions: The clinical manifestations of GS are non-specific, and there is a lack of evidence-based treatment guidelines for pregnant GS patients, so multidisciplinary management of pregnant GS women is essential. Treatment should be cautious and individual, and the electrolytes should be closely monitored to avoid complications caused by electrolyte disturbance and strive to obtain a good maternal and fetal outcome.
Hyperhomocysteinemia in a Patient with Moyamoya Disease
