Molecular pathogenesis of Bartter’s and Gitelman’s syndromes
| Autor: | Ira Kurtz, Jordan J. Cohen, John T. Harrington, Nicolaos E. Madias, Cheryl J. Zusman |
|---|---|
| Rok vydání: | 1998 |
| Předmět: |
Male
medicine.medical_treatment 030232 urology & nephrology Metabolic alkalosis Sodium Chloride Plasma renin activity chemistry.chemical_compound 0302 clinical medicine hyperprostaglandin E syndrome 0303 health sciences Aldosterone Symporters Syndrome Sodium Chloride Symporters Hypokalemia 3. Good health Kidney Tubules Nephrology Female medicine.symptom Adult Heterozygote medicine.medical_specialty DNA Complementary Molecular Sequence Data Renal function Dinoprostone Hypomagnesemia hypomagnesemia 03 medical and health sciences nephrocalcinosis Internal medicine hypokalemia medicine Humans Amino Acid Sequence hypocalciuria 030304 developmental biology Ion Transport business.industry Bartter Syndrome medicine.disease Endocrinology metabolic alkalosis chemistry Mutation Calcium Diuretic Carrier Proteins business Muscle cramp |
| Zdroj: | Kidney International. 54:1396-1410 |
| ISSN: | 0085-2538 |
| DOI: | 10.1046/j.1523-1755.1998.00124.x |
| Popis: | A 42-year-old man presented to UCLA with a history of chronic hypokalemia and hypomagnesemia. His medical history was unremarkable except for occasional cramps in his calves. He had no history of laxative or diuretic abuse or of vomiting, and he was taking no medications. His 47-year-old brother also had a history of chronic hypokalemia and hypomagnesemia and severe intermittent muscle cramps. He was being treated with amiloride and magnesium supplementation. Both parents and a third brother were asymptomatic and had no electrolyte abnormalities. Physical examination revealed a well-developed white male in no distress. His blood pressure was 110/70 mm Hg: heart rate. 72 beats/min; jugular venous pressure was estimated to be 7 cm: his chest was clear to auscultation. Cardiovascular examination disclosed a regular rate and rhythm, and no murmurs. rubs, or gallops; his abdomen was nontender without hepatosplenomegaly. Neurologic examination revealed cranial nerves 2-12 intact, no sensory or motor deficit, and no Chvostek or Trousseau sign. He did not have peripheral edema. Laboratory values were: serum sodium, 136 mEq/liter; potassium, 2.4 mEq/liter; chloride. 94 mEq/liter; total CO 2 , 28 mEq/liter; venous pH, 7.47 and PCO 2 , 38 mm Hg; BUN, 10 mg/dl; serum creatinine. 0.7 mg/dl; ionized calcium, 1.25 mmol/liter; total calcium, 9.2 mg/dl; phosphorus, 3.2 mg/dl; magnesium, 1.1 mg/dl; supine plasma renin, 16.6 ng/ml/hr; supine aldosterone, 168 pg/ml; PTH, 13 pg/ml; 1,25(OH) 2 vitamin D, 42 pg/ml. Urine chemistries were: sodium, 64 mEq/liter; potassium. 42 mEq/liter; chloride, 58 mEq/liter; calcium, I mg/dl; magnesium, 4.3 mg/dl; phosphorus, 67.4 mg/dl; and creatinine, 81 mg/dl, A diuretic screen was negative. The patient was discharged on no medications and has remained asymptomatic. |
| Databáze: | OpenAIRE |
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