Pseudohypoaldosteronism: Kidney, lungs and colon

Clinical Endocrinology

Volumn 56, Issue 5, 2002, Pages 571-572

  Fuller, Peter J ^a   Rogerson, Fraser M ^a  

^a HUDSON INSTITUTE OF MEDICAL RESEARCH   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; MINERALOCORTICOID RECEPTOR; SODIUM CHANNEL;

ADRENAL CORTEX INSUFFICIENCY; AUTOSOMAL DOMINANT INHERITANCE; BARTTER SYNDROME; COLON; GENE EXPRESSION; GENE MAPPING; GITELMAN SYNDROME; GORDON SYNDROME; HORMONE RESISTANCE; HUMAN; HYPERKALEMIA; HYPERTENSION; KIDNEY; LIDDLE SYNDROME; LUNG; MISSENSE MUTATION; NONHUMAN; NOTE; PRIORITY JOURNAL; PSEUDOHYPOALDOSTERONISM TYPE 1; PSEUDOHYPOALDOSTERONISM TYPE 2;

COLON; HOMEOSTASIS; HUMANS; INFANT; KIDNEY; LUNG; MUTATION; PSEUDOHYPOALDOSTERONISM; SODIUM; SODIUM CHANNELS;

EID: 0036268295     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2265.2002.01512.x     Document Type: Note

References (19)

1. Compound heterozygous mutations in the γsubunit gene of ENaC (1627delG and 1570-1G→A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1
2. +-ATPase and nasal potential in pseudohypoaldosteronism
3. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1
4. A salt-wasting syndrome in infancy
5. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type 1
6. Type 1 pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects
7. Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism
8. Mineralocorticoid resistance: Natural history and pathogenesis
9. Pseudohypoaldosteronism: Molecular characterization of the mineralocorticoid receptor
10. Pseudohypoaldosteronism in eight families: Different forms of inheritance are evidence for various genetic defects
11. Molecular mechanisms of human hypertension
12. A patient with pseudohypoaldosteronism type 1 and respiratory distress syndrome
13. Absence of amiloride-sensitive sodium absorption in the airway of an infant with pseudohypoaldosteronism
14. Mineralocorticoid action
15. A novel splice-site mutation in the γsubunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families
16. Postnatal development of renin-angiotensin-aldosterone system, RAAS, in relation to electrolyte balance in premature infants
17. A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1
18. Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: Identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds
19. Human hypertension caused by mutations in WNK kinases