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RenalTube

Publications

03/05/2021 | Renaltube publications

Kidney function in patients with primary distal renal tubular acidosis

Recent reports indicate that chronic reduction of glomerular filtration rate (GFR) is common in patients with distal renal tubular acidosis (DRTA). Factors responsible for decreased GFR need clarification. Our findings confirm the risk of kidney function reduction in patients with DRTA of pediatric age onset, suggesting that low GFR is related with less favorable growth outcome and discloses the high frequency of LBW in primary DRTA, a hitherto unrecognized feature.

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03/05/2021 | Renaltube publications

Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population

This study shows that growth retardation and rickets were the most prevalent clinical manifestations at diagnosis in a large series of Spanish pediatric patients with XLH confirmed by mutations in the PHEX gene. Traditional treatment with phosphate and vitamin D supplements did not improve height or corrected hypophosphatemia and was associated with a risk of hyperparathyroidism and nephrocalcinosis. The severity of the disease was similar in males and females.

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03/05/2021 | Renaltube publications

Heterogeneity is a common ground in familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutations

In a contemporary cohort of FHHNC patients with CLDN19 mutations, females seemed to progress to CKD-stage 3 faster than males. Increased PTH levels at baseline may indicate a more severe renal course. There was high phenotype variability among patients with CLDN19 mutations and kidney function impairment differed even between siblings.

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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.

How to participate

I want to collaborate and my patient has no genetic study done

I am only interested in genetic study

I want to collaborate and my patient does have a genetic study done

What do we do

We want to contribute to increase knowledge in Primary Tubulopathies

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Sponsors

Meet the entities and organizations that support the project

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Results dissemination policy

The dissemination of findings increases knowledge

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