This is a heterogenous group of hereditary disease resembling endocrinologic disorders but due to hereditary kidney disease.
Generally such a disorder can be suspected in cases where a discrepancy between clinical data and hormone levels can be found.
The receptor, signal transduction or metabolism might be disturbed in these diseases.
1. |
Lania A et al. (2001) G protein mutations in endocrine diseases. |
2. |
Cole DE et al. (2000) Inherited disorders of renal magnesium handling. |
3. |
Bonny O et al. (2002) Disturbances of Na/K balance: pseudohypoaldosteronism revisited. |
4. |
OMIM.ORG article Omim 103580 |