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3/2020
vol. 95 streszczenie artykułu:
Opis przypadku
Gordon syndrome in an 11-year-old boy: long-term follow-up
Andrzej Badeński
1
,
Marta Badeńska
1
,
Omar Bjanid
1
,
Justyna Czubilińska-Łada
1
,
Aleksandra Gliwińska
1
,
Anna Bogdał
2
,
Olga Kupczyk
3
,
Maria Szczepańska
1
Pediatr Pol 2020; 95 (3): 184–190
Data publikacji online: 2020/10/30
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Gordon syndrome, or type 2 pseudohypoaldosteronism, is a rare familial occurring hypertension, in most cases inherited in an autosomal dominant manner. It is characterised by coexisting hyperkalaemia, which is not found in other monogenic forms of hypertension. In addition, in this syndrome aldosterone levels are usually low, and renin activity is reduced under normal salt loading. Renal function, assessed on the basis of glomerular filtration rate, is normal, but metabolic acidosis – type IV renal tubular acidosis – may occur. The authors would like to present the case of an 11-year-old boy in whom the above-described symptoms of Gordon syndrome were observed; clinically effective thiazide diuretic therapy, and subsequent genetic analysis confirmed the diagnosis. słowa kluczowe:
hyperkalaemia, renal tubular acidosis, pseudohypoaldosteronism type 2, monogenic arterial hypertension, rare genetic disease |
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