LAO Guo-juan,WANG Cheng-zhi,LI Na,et al.Diagnosis and Treatment of Familial Hypokalemic Periodic Paralysis with Acidosis[J].Journal of Sun Yat-sen University(Medical Sciences),2023,44(03):479-484.
LAO Guo-juan,WANG Cheng-zhi,LI Na,et al.Diagnosis and Treatment of Familial Hypokalemic Periodic Paralysis with Acidosis[J].Journal of Sun Yat-sen University(Medical Sciences),2023,44(03):479-484. DOI: 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2023.0315.
Diagnosis and Treatment of Familial Hypokalemic Periodic Paralysis with Acidosis
To investigate the diagnosis and treatment of familial hypokalemic periodic paralysis with acidosis.
Methods
2
The proband's medical history, clinical manifestations, laboratory examinations and imaging characteristics were retrospectively analyzed, and prevalence situation of family members was investigated in detail. Next generation sequencing technology was used to detect the pathogenic gene loci related to periodic paralysis, and the relevant literatures were summarized.
Results
2
The proband was definitely diagnosed as familial hypokalemic periodic paralysis. There was a heterozygous mutation in the
SCN4A
gene of the proband, which was c.2006G
>
A, resulting in amino acid changes R669H.The proband's grandfather, father and uncle shared the same variation.
Conclusions
2
Familial hypokalemic periodic paralysis with paroxysmal acidosis is rare, which is easily misdiagnosed as renal tubular acidosis. c 2006G
>
A mutation in
SCN4A
gene is the molecular basis of the disease in this family. The clinical phenotypes of different gene mutations are different, and gene screening is helpful for diagnosis and treatment.
关键词
Keywords
references
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