PubMed Health⌕ Search

Biomedical subjects

Serafín Málaga

Publications and source records attributed to Serafín Málaga.

7 recordsLinked to original sources
PubMed2007

Distal RTA with nerve deafness: clinical spectrum and mutational analysis in five children.

Distal renal tubular acidosis (RTA) with nerve deafness is caused by mutations in the ATP6V1B1 gene causing defective function of the H+ -ATPase proton pump. We report five acidotic children (four males) from four unrelated families: blood pH 7.21-7.33, serum bicarbonate 10.8-14.7 mEq/l, minimum urinary pH 6.5-7.1 and fractional excretion of bicarbonate in the presence of normal bicarbonatemia 1.1-5.7%. Growth retardation and nephrocalcinosis, but not hypercalciuria, were common presenting manifestations. Hearing was normally preserved in one of the patients whose sister was severely deaf. One child was homozygous for a known mutation in exon 1: C>T (R31X). Three children were homozygous for a splicing mutation, intron 6 + 1G>A. The other patient was a compound heterozygote, having this mutation and a previously unreported mutation in exon 10: G>A (E330K). Our report shows that hearing loss is not always present in the syndrome of distal renal tubular acidosis with nerve deafness and the absence of hypercalciuria at diagnosis and describes a new mutation responsible for the disease in the ATP6V1B1 gene.

Acidosis, Renal Tubular↗
PubMed2006

C-reactive protein is elevated in the offspring of parents with essential hypertension.

BACKGROUND: Hypertension is a risk factor for cardiovascular disease (CVD). Studies in adults have shown that high sensitivity C-reactive protein (CRP) levels are associated with increased risk of CVD and essential hypertension (EHT). Genetic background is widely accepted as a risk factor for CVD. The aim of the present study was to analyse the association of high sensitivity CRP levels with other cardiovascular risk factors in children and young adults with at least one parent with EHT. METHODS: Fifty one healthy children and young adults (28 boys) with at least one parent with hypertension and 69 (41 boys) whose parents did not have hypertension were recruited prospectively from primary care centres. High sensitivity CRP, fasting lipid profile, blood pressure (BP) and anthropometric variables were obtained for all participants. RESULTS: CRP values were higher in the study group than in controls (logCRP mean difference: -0.69; 95% confidence interval: -1.05 to -0.33), even when differences were adjusted for age, gender, body mass index (BMI) and triglyceride levels (p = 0.01). No differences were observed in BP values between groups. In the study group, 35.3% of the participants had a CRP level > or =1 mg/l compared to 14.5% in the control group (p = 0.009). CRP showed a significant correlation with body weight (rho = 0.28, p = 0.04), BMI (rho = 0.32; p = 0.02) and ponderosity index (rho = 0.28; p<0.05). CONCLUSIONS: CRP is significantly higher in the offspring of parents with EHT. A significant positive relationship exists between BMI and serum CRP levels in this high risk group of children and young adults.

Adolescent↗
PubMed2005

Maternal pregnancy vomiting and offspring salt taste sensitivity and blood pressure.

The purpose of this study was to investigate the relationship between salt taste perception and blood pressure (BP) in normotensive adolescents as modified by maternal fluid losses during the first trimester of gestation. Seventy-two healthy adolescents (42 boys) aged between 9.0-21.1 years, recruited from the population-based RICARDIN study, were included. A maternal questionnaire about the duration of pregnancy, birth weight and vomiting or diarrhoea in the first trimester of gestation was collected. The sample was categorized into: "vomiter descendents", those whose mother reported significant vomiting in the first trimester of gestation and "non-vomiter descendents" the remaining. Height, weight, and standardised BP measurement were recorded. Salt gustatory performance was assessed using a behavioral sensitivity test to determine the lower NaCl gustatory threshold, and a behavioral discrimination test, measuring the ability to distinguish among different saline solutions. Salt taste sensitivity showed a significant correlation with systolic BP (SBP) in "vomiter descendents" ( r = -0.66; P =0.003), but not in "non-vomiter descendents". Adjusted by gender, and actual height and weight, salt sensitivity performance remained significantly related to SBP. An association between descendents' SBP and maternal vomiting during gestation exists, adding a new element of evidence to the "Barker hypothesis".

Adolescent↗
PubMed2005

Renal involvement in Down syndrome.

Kidney disease has not been considered a frequent complication in Down syndrome (DS) patients; a variety of urological abnormalities and glomerulopathies have been reported in this population, and some DS patients develop chronic renal failure (CRF). The aim of this study was to improve the understanding of renal disease in patients with DS, focusing on the incidence and range of kidney and urological abnormalities in a population of DS patients. A cross-sectional study was carried out in DS patients referred from a pediatric genetics unit of a tertiary care center. Medical records were reviewed. A 24-h urine specimen and a blood sample were obtained. Fractional excretion of sodium and potassium, tubular reabsorption of phosphate, urinary excretion of calcium, magnesium, uric acid, creatinine clearance and proteinuria were determined. Ultrasound was performed to evaluate the kidneys and the urinary tract. Laboratory data were reviewed for any possible renal disorder. Sixty-nine patients, aged 12 months to 24 years, were recruited. Pathological findings included three cases of voiding disturbances and a case of hypertension in a 7-year old girl. Eight patients (11.6%) had hyperuricemia without gout. Eighteen patients (24.2%) had hyperuricosuria. Urinalysis revealed three cases of mild proteinuria and two patients with microscopic hematuria. Minor radiological abnormalities were found in five patients (7.3%). Three patients (4.5%) had CRF. Renal disease in patients with DS is not as rare as previously thought, although the majority of findings are of minor relevance. According to the variety of pathologies, and in order to detect early irreversible renal injury, it seems quite reasonable to perform regular monitoring of renal function in these patients.

Adolescent↗
PubMed2003

Blood pressure relates to sodium taste sensitivity and discrimination in adolescents.

To investigate salt perception and discrimination and their possible association with blood pressure (BP), 72 healthy adolescents (42 boys) aged 9-21 years (mean 16.1 years) were studied. BP was measured with a standardized technique. Anthropometric measurement and conventional renal function tests were performed. Sensitivity tests to recognize the presence of salt when given simultaneously distilled/deionized water and a low sodium concentration water solution, and discrimination tests consisting of six graded samples of different saline solutions presented in randomized order were used to assess individual gustatory sensitivity. Average systolic BP values were 113.2+/-1.6 mmHg in boys and 109.6+/-1.9 mmHg in girls. Mean threshold level for salt sensitivity was 4.55+/-0.6 mmol/l. Systolic BP and salt sensitivity showed a significant correlation ( r=-0.33, P<0.01) even when adjusting for weight. Discrimination score was correlated with salt sensitivity ( r=0.27, P<0.05). There is a significant association between gustatory perception and BP in Spain adolescents, although a real cause-effect relationship has not been established.

Adolescent↗
PubMed2002

Renin-angiotensin system polymorphisms and renal scarring.

The purpose of the study was to determine whether DNA polymorphisms at the renin-angiotensin-aldosterone (RAS) genes were associated with evolution to renal scar formation and, consequently, with reflux nephropathy (RN) in patients with vesicoureteral reflux (VUR). Some authors have suggested that the DD genotype of the angiotensin-converting enzyme (ACE) gene would be an adverse renal prognosis factor. We recruited 246 patients (aged 3 months to 22 years) from four Spanish hospitals. These included 69 patients with VUR, 110 with RN (determined by absence/presence of renal scarring on dimercaptosuccinc acid scan), 27 with chronic renal failure due to RN, and 40 patients (control group) with urinary tract infection and normal findings on renal ultrasonography and voiding cystoureterogram. The ACE I/D, angiotensin II type 1 receptor AT1 A1166C, angiotensin II type 2 receptor A3123C AT2, and angiotensinogen AGT M235T polymorphisms were determined on the basis of polymerase chain reaction amplification. ACE serum levels were determined by spectrophotometric methods. We found no statistical differences in the distribution of RAS polymorphisms between the different groups. The ACE D allele was linked to higher ACE serum levels. We found no association between ACE I/D polymorphism and presence of hypertension, proteinuria, grade of VUR, or unilateral/bilateral VUR. Patients with the DD genotype had a lower incidence of febrile urinary tract infection as a first symptom of VUR/RN (P<0.05). We conclude that genetic polymorphisms of RAS components are not independent prognostic indicators of renal scarring in patients with VUR.

Adolescent↗