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Portal of Primary Tubulopathies

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Publications

30/03/2020 | Renaltube publications

Incomplete distal renal tubular acidosis in children

MINI REVIEW The presentation of incomplete renal tubular acidosis (iDRTA) in children differs from that of adults. This review delves into the clinical and biochemical characteristics of iDRTA in pediatric patients and some aspects of clinical and / or genetic interest that could bring us closer to a better understanding of the pathophysiology and natural history of this condition.

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17/03/2020 | Ongoing research

Application of RenalTube to the needs of patients and clinical-experimental research on distal renal tubular acidosis and X-linked hypophosphatemic rickets

General objective of the project Adapt RenalTube to the needs of the patients and maintain their exploitation as a clinical-genetic database and deepening methods for the diagnosis of distal renal tubular acidosis and therapeutic strategies applied to hereditary X-linked hypophosphatemia (XLH). Specific objectives of the project In coordination with other RenalTube subprojects, the following are sought: i) Develop transfer actions aimed at covering the needs of patients, in collaboration with the associations that represent them. ii) Maintain, exploit and promote the growth of RenalTube as a clinical-genetic database of primary tubulopathies. iii) In relation to the ATRD, look for children who have nephrocalcionosis, lithiasis or hypogrowth of an unclear cause, could present an incomplete ATRD clinical situation and, in the parents of children with ATRD, look for the same clinical situation. iv) In relation to XLH, find out the cardiac function in children with this tubulopathy and the influence on the disease of therapeutic strategies that normalize serum phosphorus levels.

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Renaltube offers medical professionals the possibility of participating in the creation of a clinical and molecular database of patients with some of the primary tubulopathies that we show you.

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Research Groups

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