Thyrotoxic periodic paralysis associated with a mutation in the sodium channel gene SCN4A
| Autor: | Katherine Markarian, Andrew H. Lane, Ieva Braziunene |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
Proband
Male congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Adolescent Endocrinology Diabetes and Metabolism medicine.disease_cause Polymerase Chain Reaction Sodium Channels Exon Endocrinology Hypokalemic periodic paralysis Internal medicine Paralysis medicine Humans NAV1.4 Voltage-Gated Sodium Channel DNA Primers Mutation Base Sequence business.industry Thyroid Thyrotoxic periodic paralysis medicine.disease Pedigree medicine.anatomical_structure Pediatrics Perinatology and Child Health Etiology Female medicine.symptom Thyroid Crisis business |
| Zdroj: | Journal of pediatric endocrinologymetabolism : JPEM. 17(12) |
| ISSN: | 0334-018X |
| Popis: | Thyrotoxic hypokalemic periodic paralysis (THypoKPP) is an uncommon disorder with an unknown etiology. We describe a family in which the proband presented with paralysis and thyrotoxicosis. Because of similarities between familial hypokalemic periodic paralysis (FHypoKPP) and THypoKPP, we sequenced exon 12 of the SCN4A gene, which is known to be mutated in FHypoKPP. We identified an Arg672Ser mutation in the proband and his affected father, as well as the proband's brother. As the brother has paralysis without thyrotoxicosis, our finding suggests that the genetic spectrum of FHypoKPP and THypoKPP overlap. We speculate that thyroid hormone may exert a threshold or permissive effect in hypokalemic periodic paralysis. Non-thyrotoxic family members of individuals with THypoKPP may have an unrecognized risk for paralysis. |
| Databáze: | OpenAIRE |
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