• Ya-Ting Lu, Lin Wang, Le-Le Hou, Ping-Ping Zheng, Qian Xu, and Da-Tong Deng.
• Department of Endocrinology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui Province, China.
• Medicine (Baltimore). 2022 Sep 2; 101 (35): e30253.

RationalePendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss, inner ear malformations, goiter, and abnormal organification of iodide. It is caused by mutations in SLC26A4 gene, which encodes pendrin (a transporter of chloride, bicarbonate, and iodide). Pendred syndrome is a common cause of syndromic deafness, but the metabolic abnormalities it causes are often overlooked. Here, we report the case of a patient diagnosed with Pendred syndrome with hypokalemia.Patient ConcernsA 53-year-old deaf-mute woman was hospitalized due to severe limb asthenia. The emergency examination showed that her blood potassium level was 1.8 mmol/L.DiagnosesThrough the genetic test, we found a mutation of SLC26A4 gene in NM_000441: c.2027T>A, p.L676Q, as well as the SLC26A4 exon 5-6 deletion. These genetic variations pointed to Pendred syndrome (an autosomal recessive disorder that mainly affects the inner ear, thyroid, and kidney) which is a common cause of syndromic deafness.InterventionsThe patient was treated with potassium supplements and screened for the cause of hypokalemia.OutcomesThe patient was discharged after her potassium levels rose to the normal range.LessonsPatients with Pendred syndrome may also have certain metabolic abnormalities; thus, more attention should be paid to them during clinical diagnosis.Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.

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