Abstract
We recently described deficient or greatly dimished type I-mineralocorticoid receptors in mononuclear leucocytes of patients with PIIA. The clinical features of this syndrome, e.g. insensitivity to mineralocorticoids with renal salt loss leading to hyponatremia and hyperkalemia, can be explained postulating absence of type I-receptors also in the classical target organs for mineralocorticoids. In the first family studied and already reported, an autosomal recessive mode of inheritance had been suggested by normal receptor data, as well as empty history of both parents. Further suggestive of an autosomal recessive trait in this family is the fact that these parents are first degree cousins.
The second kindred studied, however, showed a clear autosomal dominant mode of inheritance. The index case presented with a salt-losing crisis and was shown to have greatly dimished amount of type I-receptors in the mononuclear leucocytes (75 receptors/cell (r/c)). Slightly reduced amount of receptors were found in the mother (95 r/c) and the mother's sister (110 r/c), as compared to the normal range of 150-600 r/c. The first child of this woman had no detectable type I-receptors, but was able to conserve sodium normally.
The different mode of inheritance in these two families suggest that the syndrome of PHA might be the consequence of different defects.
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Kuhnle, U., Keller, U., Knorr, D. et al. MODE OF INHERITANCE IN PSEUDOHYPOALDOSTERONISM (PHA): AUTOSOMAL RECESSIVE AND DOMINANT TRAIT IN TWO FAMILIES. Pediatr Res 20, 1203 (1986). https://doi.org/10.1203/00006450-198611000-00178
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DOI: https://doi.org/10.1203/00006450-198611000-00178