RARELY DISEASES IN THE PRACTICE OF «ADULT» NEPHROLOGIST: THE STATE ASSOCIATED WITH HYPOKALIEMIA. COMMUNICATION II. LIDDLE SYNDROME

The Liddle syndrome was described in 1963. And according to the modern views is a tubolopathy with autosomal dominant inheritance. It is determined by the mutation of the genes, controlling the expression of β and γ-subunits of epithelial sodium channels (ENaC), which are mostly located on the apical membranes of the main cells connecting tubules and cortical collecting ducts. The disease is very rare and shows itself in a volume-dependant, low rennin hypertension, hypokaliemia, and metabolic alkolosis. The Liddle syndrome quite often manifestoes in the childhood, but can be primary noticed in adults even in elderly patients. As a treatment organic salts in the ration, potassium salt substitutive therapy and potassium saving diuretics (amylorid, triamteren) are used.

1. Каюков ИГ, Смирнов АВ, Шабунин МА и др. Редкие заболевания в практике «взрослого» нефролога: состоянияассоциированные с гипокалиемий. Сообщение I. Гомеостаз калия, классификация и клиника гипокалиемий. Нефрология 2008; 12(4): 81-92

2. Савенкова НД, Папаян АВ, Левиашвили ЖГ. Тубулопатии в практике педиатра. Руководство для врачей. Левша, СПб., 2006; 144

3. Liddle GW, Bledsoe T, Coppage WS,Jr. A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans Assoc Am Phys 1963; 76: 199-213

4. Matsushita T, Miyahara Y, Matsushita M et al. Liddle’s syndrome in an elderly woman. Intern Med 1998;37(4):391-395

5. Warnock DG. Liddle syndrome: an autosomal dominant form of human hypertension. Kidney Int 1998; 53(1):18-24

6. Wang Y, Zheng Y, Chen J, Wu H, Zheng D, Hui R. A novel epithelial sodium channel gamma-subunit de novo frameshift mutation leads to Liddle syndrome. Clin Endocrinol (Oxf) 2007; 67(5):801-804

7. Schafer JA. Abnormal regulation of ENaC: syndromes of salt retention and salt wasting by the collecting duct. Am J Physiol Renal Physiol 2002; 283(2):F221-F235

8. Rotin D. Role of the UPS in Liddle syndrome. BMC Biochem 2008; 21 [Suppl 1]: S5-S12

9. Левицкий М. Убиквитин. www.krugosvet.ru/articles/125/1012584/1012584a1.htm -23k- ; Убиквитин зависимая система протеолиза: деградация белков. medbiol.ru/medbiol/genexp/00134ef5.htm –8k-

10. Liddle syndrome. www.bhsoc.org/bhf_factfiles/Liddle%20Syndrome%20Final%20Draft.doc

11. Findling JW, Raff H, Hansson JH, Lifton RP. Liddle’s syndrome: prospective genetic screening and suppressed aldosterone secretion in an extended kindred. J Clin Endocrinol Metab 1997; 82(4):1071-1074

12. Monnens L, Levtchenko E. Distinction between Liddle syndrome and apparent mineralocorticoid excess. Pediatr Nephrol 2004;19(1):118-119