Positive Response to One-Year Treatment With Burosumab in Pediatric Patients With X-Linked Hypophosphatemia.

X-linked hypophosphatemia (XLH) causes significant burden in pediatric patients in spite of maintained treatment with phosphate supplements and vitamin D derivatives. Administration of burosumab has shown promising results in clinical trial but studies assessing its effect in the everyday practice are missing. With this aim, we analyzed the response to one-year treatment with burosumab, injected subcutaneously at 0.

Cysteamine (Cystagon®) adherence in patients with cystinosis in Spain: successful in children and a challenge in adolescents and adults.

Background: Cysteamine has improved survival and prognosis in cystinosis. Increasing numbers of patients reach adulthood and face new challenges such as compliance that wanes over time. The aim of this study was to evaluate adherence to cysteamine treatment in a group of cystinotic patients in Spain in an attempt to identify potential therapy pitfalls and improve the overall care of affected individuals.

Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive tubular disorder characterized by excessive renal magnesium and calcium excretion and chronic kidney failure. This rare disease is caused by mutations in the CLDN16 and CLDN19 genes. These genes encode the tight junction proteins claudin-16 and claudin-19, respectively, which regulate the paracellular ion reabsorption in the kidney.

Gitelman syndrome in Gypsy paediatric patients carrying the same intron 9 + 1 G>T mutation. Clinical features and impact on quality of life.

Background: Gitelman syndrome is a primary tubular disorder causing hypokalaemic metabolic alkalosis with hypocalciuria. Its prevalence is high in Gypsies, who harbour an identical mutation, intron 9 + 1 G>T, in the SLC12A3 gene.

Methods: To better define the Gitelman syndrome in Gypsies, the clinical and biochemical features of 34 Spanish paediatric Gypsy patients were analysed.

Renal dysplasia/hypoplasia, Williams Syndrome phenotype and non-Hodgkin lymphoma in the same patient: only a coincidence?

Congenital renal anomalies, Williams Syndrome and non-Hodgkin lymphoma all occur separately at low incidence, so their simultaneous presence in the same patient is exceptional. We present a young patient manifesting all three conditions. This child is a boy with a Williams Syndrome phenotype who was diagnosed with severe chronic kidney disease secondary to bilateral renal dysplasia/hypoplasia.