RESUMEN
Objective:To explore the clinical characteristics and genetics of a Chinese patient with Gitelman syndrome (GS) and improve the awareness and diagnosis of GS among clinicians.Methods:Retrospectively analyzed the GS patient's clinical feature, laboratory examination, diagnosis, treatment and literature review admitted to Hebei General Hospital in September 2022.Results:A twelve-year-old boy was admitted to our department due to weakness of lower limbs. Laboratory tests after admission showed hypokalemia, hypomagnesemia, hypocalcemia and metabolic alkalosis. Genetic testing showed tow compound heterozygous mutations in the SLC12A3 gene (c.1456G>A and c.634G>A), which ultimately diagnosed as GS. The patient is on the mend and allowed to leave the hospital after treated by potassium supplement.Conclusion:The rate of leak diagnosis is high. Genetic testing should be undergo earlier if the patients suspected GS.
RESUMEN
Objective:To explore the clinical characteristics and genetic characteristics of gene mutation of pyruvate dehydrogenase E1α deficiency.Methods:The clinical and genetic characteristics of a rare girl infant with pyruvate dehydrogenase E1 α deficiency confirmed by Hebei General Hospital were retrospectively analyzed, and the literature was reviewed combined with the research progress of the disease.Results:The rare case of baby girl, early onset, psychomotor development is severely backward, persistent hyperlactic acid and hyperpyruvemia, metabolic acidosis, the head MRI shows septum pellucidum is small, interventricular septum is absent; fornix is unclear, splenium of corpus callosum is small and extruded forward like a canopy.The top of the third ventricle is elevated to the dorsal side, the left paracele enlarge to the right, the left interventricular foramen is obviously enlarged.Intermittent periods EEG: a large number of medium and high amplitude spike slow waves, slow waves, and a small amount of multiple spike slow waves are scattered or continuously distributed in the left posterior head (O1, T5). A large amount of low amplitude slow wave can be seen in the bilateral hemisphere.The second-generation gene sequencing found a heterozygous missense mutation of C>T (p.A169v) in the position of chrx-19371287 in the PDHA1 gene of the child, but not in the parent PDHA1 gene.And the diagnosis of pyruvate dehydrogenase E1 α deficiency was identifie.Conclusion:PDHAl mutation-induced pyruvate dehydrogenase E1 α deficiency lacks specificity at an early stage, and female patients are more rare due to random inactivation of the X chromosome.It is necessary to be vigilant against metabolic acidosis in children with unexplained psychomotor retardation, persistent hyperlactemia and difficult to correct.It can be diagnosed by gene analysis.