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Biomedical subjects

F Castelló Girona

Publications and source records attributed to F Castelló Girona.

10 recordsLinked to original sources
PubMed2001

[Gaucher's disease with D409H/D409H genotype. evolution with enzyme replacement therapy].

Gaucher's disease is caused by mutations in the gene encoding glucocerebrosidase. The D409H mutation is the third most frequent mutation in Spain and has been associated with a particular phenotype, including oculomotor apraxia and cardiac valvular calcifications in late childhood. We report a 4-year-old patient, homozygous for the D409H mutation, who was diagnosed with Gaucher's disease at the age of 45days. Enzyme replacement therapy was started at the age of 2months. We report the patient's evolution after 4years of treatment.

Child, Preschool↗
PubMed1996

[Renovascular hypertension due to unilateral renal artery stenosis with hypokalemic alkalosis, the salt-losing syndrome and reversible hyperechogenicity of the contralateral kidney. A study of 2 infants].

This report describes two infants with severe arterial hypertension secondary to unilateral renal artery stenosis which was manifested by polyuria, polydipsia, hypokalemic alkalosis, hyponatremia, increased natriuresis and increased plasma values of rennin and aldosterone. On sonographic examination, the contralateral non-stenotic kidney of both patients appeared enlarged and hyperechogenic mimicking parenchymal lesion. When the patients became normotensive, their sodium and potassium balance became normal and their contralateral non-stenotic kidney also became normal in size and echogenicity. The increase of the filtration and the natriuresis observed in the contralateral non-stenotic kidney of the patients with renovascular hypertension due to renal artery stenosis might be responsible for the hyperechogenicity. When the patients became normotensive, the filtration and excretion of sodium of the contralateral kidney also became normal and the increase of echogenicity also disappeared. The reversibility of the sonographic findings suggest a functional origin.

Alkalosis↗
PubMed1992

[Evolution and treatment of 19 cases of pertussis in infants under 4 months of age].

We present 19 cases of pertussis in infants under 4 months of age. In all cases, Bordetella pertussis was isolated from nasopharyngeal swabs. A whooping cough, cyanotic episodes and eating disturbances were the most characteristic clinical findings. Treatment included: supportive care, salbutamol, beclomethasone, and josamycin. Lymphocyte counts higher than 40,000/mm2 were associated with a greater severity of illness. The most frequent complications were: recurrent cough and pneumonia. None of the patients died.

Age Factors↗
PubMed1986

[Tubular handling of potassium in cystinosis].

Seven patients with cystinosis (Ccr between 30 and 90 ml/m/1.73 m2), were studied attempting to delineate renal tubular handling of potassium. Ks, Ck/Ccr X 100, Aldou and UAldo V/Ks were determined in basal conditions; tubular handling of water and sodium, and clearance of potassium were studied during hypotonic saline diuresis. Results obtained in cystinosis were compared with normal values and with values found in renal insufficiencies in the same range of GFR. Studies performed indicate that in cystinosis Ks is lower and Ck/Ccr X 100 and UAldo V/Ks higher than in normal children. During hypotonic saline diuresis, patients with cystinosis presented higher fractional water, sodium and potassium clearances than control children with the same range of GFR.

Adolescent↗
PubMed1982

[Vesicoureteral reflux in the first year of the life (author's transl)].

A group of 50 children in the first year of life with vesicoureteric reflux (VUR) has been followed-up for a period of two-eleven years. VUR has been classified in four grades according to Hertz's criteria. Clinical evolution and renal scarring have been related to the degree of VUR. The absence of urinary tract infection (UTI) influences disappearance of the VUR grade 3 but does not influence the disappearance of VUR grade 2. There is a statistically significant correlation between renal scarring, the degree of VUR and renal growth. UTI influences renal growth in scarred kidneys with VUR grade 3. No scars have been seen in previously normal kidneys in the first radiological examination.

Cicatrix↗