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Inventi Rapid - Urology & Nephrology
(Formerly Inventi Rapid/Impact: Kidney)

Articles

  • Inventi:hun/27125/18
    GITELMANS SYNDROME: CASE REPORT
    G Sravani*, B Sowmya, M Haripriya, P Lakshmi

    Gitelman syndrome (GS) is an autosomal recessive disorder involving mutation of genes SLC12A3 encoding the human sodium chloride co-transporters and magnesium channels in the thiazide-sensitive segments of the distal convoluted tubule which leads to hypocalcirua, hypermagnesuriam, hypochloremia, hypokalaemia and metabolic acidosis. We present a case of 48 years old male patient admitted to our hospital with complaints of muscle of weakness, dizziness, vomiting, muscle spasms and salt craving since one week. On physical examination, he had a blood pressure of 120/90 mm of Hg, regular pulse frequency of 80/min. Respiratory system, pulse volume and cardiovascular system was normal, polyuria and nycturia with no other urinary tract symptoms. Hydration and colouration of skin, mucosa was normal. The confirmation of gitelman syndrome was done based on signs and symptoms, laboratory data (hypocalciuria, hypermagnesuria, hypochloremia, hypokalaemia and metabolic acidosis). GS can be treated with potassium and magnesium supplements along with potassium sparing diuretics.

    How to Cite this Article
    G Sravani, B Sowmya, M Haripriya et al. Gitelmans Syndrome: Case Report. Inventi Rapid: Urology & Nephrology, 2018(4):1-2, 2018.
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