The R528H mutation in HypoPP can be associated with a severe phenotype and unfavorable prognosis, highlighting the need for genetic characterization to guide management, especially during anesthesia.
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R528H HypoPP cases showed severe prognosis including anesthetic death; hypothesis-generating for genotype-specific perioperative risks pending prospective data.
Hypokalemic periodic paralysis (HypoPP) is a channel disorder caused primarily by mutations in the human skeletal muscle alpha1 subunit (CACNA1S) of the dihydropyridine-sensitive calcium channel. Molecular, clinical, and biochemical studies were aimed at establishing genotype/phenotype correlations in a large Italian family affected by a severe form of HypoPP. Whereas patients with HypoPP usually show a normal life span, in this family three male patients died young, one of them from anesthetic complications resembling malignant hyperthermia. Our patients carried the c1583G>A genetic lesion (R528H), which has been associated with a mild phenotype and with incomplete penetrance in women. Surprisingly, the R528H amino acid substitution in the family presented here correlated with an unfavorable prognosis in both male and female patients. We conclude that genetic characterization is an important requirement to alert physicians about the management of similar patients, especially when anesthesia is considered.
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Caciotti et al. (2002) studied this question.
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