Survey aim and preliminary information

I am Floriana Secondulfo and I am a Nephrology student doing a research fellowship project on proximal renal tubular acidosis (pRTA): the objective is to collect and analyze information about patients to better understand this rare disease.

We would like to include all patients with isolated pRTA with either a genetic confirmation of SLC4A4 and CA2 variants or patients with secondary pRTA induced by carbonic anhydrase inhibitors (acetazolamide, methazolamide, topiramate, dichlorphenamide, brinzolamide...).

Both groups will be analyzed separately.

Since proximal renal tubular acidosis constitutes a very rare condition, your contribution would be very helpful!



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