Prenatal Diagnosis in Hyperprostaglandin E Syndrome
OBJECTIVE
To describe prenatal genetic diagnosis in hyperprostaglandin E syndrome (HPS) and the effect of indomethacin therapy on the course of the disease before birth and in the neonatal period.
Types of Bartter Syndrome
Bartter syndromes are defined as a family of inherited recessive autosomal tubulopathies. They are characterized by hypochloremia, hypokalemia, metabolic alkalosis associated with potassium renal leakage and normal blood pressure despite increased plasma renin activity. Read the rest »
Inherited Disorders of Renal Magnesium Handling
The genetic basis and cellular defects of a number of primary magnesium wasting diseases have been elucidated over the past decade. This review correlates the clinical pathophysiology with the primary defect and secondary changes in cellular electrolyte transport.
High Magnesium Foods
Here’s a chart showing amounts of magnesium in common foods. Food items are listed by amount of magnesium in each. Notice the difference between brown rice and white rice, 42 milligrams in the brown and only 13 in the white rice.
You may also be interested in another article, Amounts of Magnesium and Potassium in Snack Foods
A Case of Neonatal Bartter’s Syndrome
We describe a child with a neonatal presentation of Bartter’s syndrome. Unlike infants previously described with a similar clinical presentation, the urinary excretion rate of prostaglandin E2 in this child was similar to normal children and Tamm-Horsfall protein was distributed normally in the thick ascending limb of the loop of Henle. The child failed to respond to indomethacin alone, but thrived after the addition of the angiotensin converting enzyme inhibitor, captopril.
Prenatal Diagnosis of Bartter Syndrome
Biochemical examination of mother’s urine is useful for prenatal diagnosis of Bartter syndrome.
Bartter syndrome is characterized by renal potassium and chloride loss, hypokalaemia, hypochloraemic metabolic alkalosis and increased plasma renin activity along with elevated angiotensin II and hyperaldosteronism. For diagnosis we conducted biochemical examinations of both amniotic fluid and the mother’s urine.
Magnesium and Potassium Deficiency
Magnesium is an essential cation, involved in many enzymatic reactions, as a cofactor to adenosine triphosphatases. It is critical in energy- requiring metabolic processes, as well as protein synthesis and anaerobic phosphorylation. Serum Mg concentration is maintained within a narrow range by the kidney and small intestine since under conditions of Mg deprivation both organs increase their fractional absorption of Mg. If Mg depletion continues, the bone store contributes by exchanging part of its content with extracellular fluid (ECF).
Magnesium Increases Potassium
Does magnesium play a role in the hypokalemia of Bartter’s syndrome?
A patient with Bartter’s syndrome manifested hypomagnesemia in addition to hypokalemia. Under conditions of maximal free water production, he had a fractional distal solute reabsorption of 0.65, a value consistent with a renal defect in sodium chloride reabsorption in the thick ascending limb of the loop of Henle. This is also the site of 65% to 70% of urinary magnesium reabsorption.
Indomethacin for Growth
Neonatal Bartter syndrome differs from the classical Bartter syndrome in the occurrence of antenatal presentation with polyhydramnios. Nephrocalcinosis and severe growth retardation are common sequelae. Indomethacin has been reported to improve linear growth, but its use in the early newborn period has been infrequently described.
Bartter Syndrome in Two Generations
Bartter’s syndrome (BS) is characterized by primary renal tubular hypokalemic metabolic alkalosis, hyperreninemia, hyperaldosteronism and normal blood pressure. The parents and siblings of a BS patient were evaluated for renal tubular function. The father and all 9 siblings of the patient had biochemical features of BS.
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