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A deficient response of atrial natriuretic peptide to volume overload in Gordon's syndrome
M Välimäki1, R Pelkonen, I Tikkanen
1Third Department of Medicine, University of Helsinki, Finland.
Insights
Gordon's syndrome, characterized by hypertension and electrolyte imbalances, may stem from low atrial natriuretic peptide levels. This finding suggests a new therapeutic target for managing this rare genetic disorder.
Area of Science:
- Endocrinology
- Nephrology
- Genetics
Background:
- Gordon's syndrome is a rare genetic disorder presenting with hypertension, hyperkalemia, and hyperchloremic acidosis.
- Previous hypotheses suggested increased renal sodium reabsorption as the primary cause.
Observation:
- A 19-year-old woman and her family members were diagnosed with Gordon's syndrome.
- Patients exhibited normal glomerular function, renal sodium handling, and urine acidification.
- Plasma aldosterone levels were normal, but atrial natriuretic peptide (ANP) levels were low in affected individuals.
Findings:
- Low basal and volume-stimulated plasma concentrations of atrial natriuretic peptide (ANP) were observed in patients.
- The kaliuretic response to sodium chloride infusion was not diminished, challenging the sodium avidity hypothesis.
- Hydrochlorothiazide treatment effectively normalized blood pressure, acidosis, and hyperkalemia in the proband.
Implications:
- This study suggests a deficiency in atrial natriuretic peptide (ANP) plays a significant role in the pathogenesis of Gordon's syndrome.
- Targeting ANP levels could offer a novel therapeutic strategy for Gordon's syndrome.
- Further research into the role of ANP in electrolyte balance and hypertension is warranted.
Abstract:
Gordon's syndrome was diagnosed in a 19-year-old woman who had hypertension, hyperkalemia and hyperchloremic acidosis. In family screening, hyperkalemia and hyperchloremic acidosis were also found in the patient's mother and brother. The proband and her brother were studied and showed normal glomerular function with normal renal sodium conservation and urine acidification mechanisms. The levels of plasma aldosterone were normal in both subjects. The renin activity was low in the proband but normal in the brother. Both the basal and the volume-stimulated plasma concentration of atrial natriuretic peptide was low in the two patients. As compared with controls, the kaliuretic response to infusion of sodium chloride was not decreased in the patients. Hydrochlorothiazide promptly corrected the acidosis and the hyperkalemia as well as normalized the raised blood pressure of the proband. We suggest that a deficiency of atrial natriuretic peptide rather than an unusual avidity for sodium chloride reabsorption by the renal tubules plays a significant pathogenetic role in Gordon's syndrome.