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WCN23-0082 Clinical Features between Hypokalemic and Thyrotoxic Periodic Paralysis by T. APIYANGKOOL; N. Siriwattanasit; P. Inkong; N. Varothai; P. Thimachai; P. Tasanavipas; A. Chaiprasert; N. Nata; T. Tangwonglert; O. Supasyndh; B. Satirapoj is a Medicine article available to read on EtoBox.

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history of drug intake and features suggestive of autoimmune condition.In this case distal RTA is mostly due to genetic mutation although family history was absent, autosomal recessive inheritance is highly likely.They are caused by a variation (mutation) in one of at least three different genes; the SLC4A1 gene, the ATP6V0A4 gene, and the ATP6V1B1 gene. A variation in the SLC4A1 gene is usually inherited in an autosomal dominant pattern and Variations in the ATP6V0A4 and ATP6V1B1 genes are usually inherited in an autosomal recessive pattern. Due to the resource poor settings we could not do the genetic studies and confirm the diagnosis. Conclusions: Incomplete dRTA was first described by Wrong and Davies in 1959. Incomplete dRTA is not commonly diagnosed because the routine clinical test are all normal. Important difference between type I dRTA and incomplete dRTA is the fact that ammonium excretion is typically normal in incomplete dRTA while it is significantly reduced in the case of type I dRTA.Incomplete distal RTA is a rare disorder and its incidence and prevalence is very low.

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Author

T. APIYANGKOOL; N. Siriwattanasit; P. Inkong; N. Varothai; P. Thimachai; P. Tasanavipas; A. Chaiprasert; N. Nata; T. Tangwonglert; O. Supasyndh; B. Satirapoj

Publisher

Elsevier BV

Published

2023

Language

EN

Field

Medicine (Health Sciences)