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F Castelló

Publications and source records attributed to F Castelló.

11 recordsLinked to original sources
PubMed2000

Therapeutic effects of docosahexaenoic acid ethyl ester in patients with generalized peroxisomal disorders.

Generalized peroxisomal disorders are severe congenital diseases that involve the central nervous system, leading to severe psychomotor retardation, retinopathy, liver disease, and early death. In these disorders, peroxisomes are not normally formed and their enzymes are deficient. Characteristically, plasmalogen synthesis and beta-oxidation of very-long-chain fatty acids (VLCFAs) are affected. We found that patients with generalized peroxisomal disorders have a profound brain deficiency of docosahexaenoic acid (DHA; 22:6n-3) and low DHA concentrations in all tissues and the blood. Given the fundamental role of DHA in neuronal and retinal membranes, a DHA deficiency of this magnitude might be pathogenic. Thus, we studied the possible therapeutic effect of normalizing DHA concentrations in patients with peroxisomal disorders. We chose the DHA ethyl ester (DHA-EE) because of its high degree of purity at daily oral doses of 100-500 mg. This article summarizes the results of treatment of 13 patients with DHA-EE, with some follow-up evidence of clinical improvement. Supplementation with DHA-EE normalized blood DHA values within a few weeks. Plasmalogen concentrations increased in erythrocytes in most patients and after DHA concentrations were normalized, amounts of VLCFAs decreased in plasma. Liver enzymes returned almost to normal in most cases. From a clinical viewpoint, most patients showed improvement in vision, liver function, muscle tone, and social contact. In 3 patients, normalization of brain myelin was detected by magnetic resonance imaging. In 3 others, myelination improved. In a seventh patient, myelination is progressing at a normal rate. These results suggest a fundamental role of DHA in the pathogenesis of Zellweger syndrome. DHA therapy is thus strongly recommended, not only to alleviate symptoms in patients with life-threatening diseases, but also to clarify remaining questions regarding the role of DHA in health and disease.

Brain↗
PubMed1999

[Treatment of generalized peroxisomal disorders with docosahexaenoic acid ethyl ether].

INTRODUCTION: We found that patients with the Zellweger syndrome and other generalized peroxisomal disorders have a dramatic decrease of docosahexaenoic acid (DHA, 22:6n-3) in the blood, brain, retina and other tissues. DHA is believed to play an important role in the brain and retina. DEVELOPMENT: Patients with the Zellweger syndrome and its variants have severe cerebral and retinal defects that could be related to their DHA deficiency. With this rationale, we have been treating peroxisomal-disorder patients with a DHA derivative of a high degree of purity (DHA ethyl ester, > 90% pure) since 1991. So far, we have treated 13 DHA-deficient peroxisomal patients, one with the classic Zellweger syndrome and 12 with milder variants of the disease. This paper presents the follow-up of these DHA-treated patients. In summary, we have found important improvements in liver function, in the plasmalogen levels and in the two ratios 26:0/22:0 y 26:1/22:0, diagnostic of the disease. We have also found clear clinical improvements in most cases. Most significantly, magnetic resonance imaging has shown advances in brain myelination, so far in 6 of the treated patients. CONCLUSION: We strongly recommend treatment with DHA ethyl ester in all DHA-deficient patients with generalized peroxisomal disorders. Logically, treatment should be started as soon as possible, in the hope of preventing cerebral and visual damage.

Brain↗
PubMed1998

Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis.

Gaucher disease results, in most patients, from mutations in the gene encoding glucocerebrosidase. Mutation D409H is the third most frequent in Spanish patients, accounting for 5.7% of all mutated alleles. This allele is associated mainly with the neurological forms of the disease. Recently, homozygosity for the D409H mutation has been associated with a particular phenotype, including specific cardiovascular symptoms. Here we report a second Spanish patient bearing the D409H/D409H genotype with a very early manifestation of the disease. The patient started enzyme replacement therapy at 3 months of age. A common origin for the Spanish D409H alleles was ruled out by haplotype analysis using an internal polymorphism of the glucocerebrosidase gene and two external microsatellite markers.

Gaucher Disease↗
PubMed1979

[Hypervitaminosis D. Review of fifteen cases].

Fifteen cases of hypervitaminosis D in childhood are reviewed. In all of them, vitamin D was given following medical prescription. In four occasions, excessive dosage of vitamine D impaired the evolution of a previous nephropathy. The clinical, analytical, radiological and histological findings as well as the therapeutical aspects are commented. Hypercalcemia, hypercalciuria, polyuria with hypostenuria, renal failure, bone lesions and nephrocalcinosis are the most prominent features of the picture. Occasionally, arterial hypertension and glycosuria were found. Prednisone, thyrocalcitonine and phosphates were used as therapeutical means. In spite of nephrocalcinosis and renal failure generally present at diagnosis, the clinical course was rather good.

Calcitonin↗
PubMedDate not supplied

[Review of 15 cases of hypervitaminosis D].

In our experience, hypervitaminosis D, which at present should only be a historic remembrance in pediatrics, is still a frequent cause of hipercalcemia in childhood. It is easy understand that its appearance should turn out to be a complication in the treatment of hypoparathyroidisms or in vitamin D resistant rickets, but its persistance as a purely iatrogenic diseases is at present inexplicable. The frequency with which we have seen it has led us to review 15 cases where erroneous administration of high doses of vitamin D has resulted in serious clinical, biological and anatomical problems.

Child, Preschool↗
PubMedDate not supplied

[Cystine-lysinuric lithiasis].

Cistin-lisinuria is not a unfrequent etiology of lithiasis in children. Six patients have been studied as well as their families, being a total of 45 patients. Lithiasis was present in ten of our patients, and hyperaminoaciduria, without lithiasis in ten, affecting in both cases (with or without litiasis) either all the four amynoacide (cystine, lysine, arginine and ornithine) or only one or two of them. Authors have not found any correlation between clearance of cystine and the presence or absence of lithiasis; on the other hand the best index to correlate the presence of lithiasis is to reach a value, equal or superior to 300 mgr of cystine excreted in the urine per 1 gr of creatinine excreted in urine. The correct treatment in cystinuric patients with lithiasis is to alcalize the urine maintaining a constant urinary pH between 7-8, giving a sufficient dose of sodium bicarbonate per os. In case of resistance to this treatment or if a great calculi is present, D-penicillamine would be an efficient treatment to disolve the calculi. These treatment when carried out under analytical control presents no problems or complications in their experience.

Adolescent↗