What is Type III Renal Tubular Acidosis? I was only taught Types I, II and IV
i had to check it up - great question. very rare. its a combined distal and proximal. also called juvenile. as its a variant of type I affecting children. there is some connection to carbonic anhydrase II deficiency
Type 3 RTA, aka mixed RTA, is a rare autosomal recessive disorder that has features of both distal and proximal RTA. It is due to an inherited carbonic anhydrase (CA) II deficiency.
Type 3 RTA-Combined proximal and distal RTA In some patients, their RTA shares features of both dRTA and pRTA. This rare pattern was observed in the 1960s and 1970s as a transient phenomenon in infants and children with dRTA, possibly in relation with some exogenous factor such as high salt intake, and is no longer observed.[4] This form of RTA has also been referred to as juvenile RTA. Combined dRTA and pRTA is also observed as the result of inherited carbonic anhydrase II deficiency. Mutations in the gene encoding this enzyme give rise to an autosomal recessive syndrome of osteopetrosis, renal tubular acidosis, cerebral calcification, and mental retardation.t is very rare and cases from all over the world have been reported, of which about 70% are from the Magreb region of North Africa, possibly due to the high prevalence of consanguinity there. The kidney problems are treated as described above. There is no treatment for the osteopetrosis or cerebral calcification. [wikipedia]
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