Maria Angeles Basterrechea

Gitelman syndrome during pregnancy: a therapeutic challenge

We report a female patient diagnosed of Gitelman disease who suffered from severe hypokalemia and hypomagnesemia during pregnancy. We discuss the therapeutic approach and materno-fetal outcome.

Clinical and Analytical Findings in Gitelman’s Syndrome Associated with Homozygosity for the c.1925 G>A SLC12A3 Mutation

Background: Gitelman’s syndrome (GS) is caused by mutations in the SLC12A3. Most of the mutations are rare, making it difficult to establish a genotype-phenotype correlation. Although GS is a recessive disorder, some patients also have an affected parent, suggesting a dominant inheritance. Methods: We sequenced the 26 coding exons of SLC12A3 in a family in which the proband and her father had a late onset GS. We obtained cDNA of the 2 patients and analyzed the effect of a mutation on pre-mRNA splicing. Results: The 2 patients were homozygous for a nucleotide change in the last nucleotide of exon 15: c.1925 G>A. The mother was a heterozygous carrier for this putative mutation. Amplification of cDNA with primers for exons 14–17 was negative, suggesting that this mutation affected the splicing and promoted mRNA degradation through nonsense-mediated decay. Conclusions: We report a family with 2 patients with late onset GS and homozygous for a mutation in the last nucleotide of exon 15. Our study shows that homozygosity for this mutation resulted in a significant loss of normal SLC12A3 transcript.

Diffuse alveolar damage and acute kidney injury induced by abusive use of non-steroidal anti-inflammatory drugs: a new and atypical renopulmonary syndrome?

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HYPERTENSION AND VASCULAR RISK IN VERY ELDERLY: PP.19.214

Objectives: The prevalence of hypertension (HT) in >65 years is high, however people >80 years represent one of the most forgotten, despite the high prevalence of HT. Our objective was to determine the clinical characteristics of the population >80 years who attended our consultation. Methods: Cross-sectional study, during 2009, which included patients >65 years. We studied: demographic parameters, cardiovascular risk factors (CRF), target organ damage (TOD) and comorbidity. Statistical analyses of qualitative variables are in percentages and frequencies, numerical in standard deviation; comparison of categorical variables using X2 test and for continuous T-student test. A p value <0.05 was considered significant. Results: There was 307 patients >80 years and 418 between 65–80 years. In patients >80 years, 61.2% were men, 84.7% had hypertension, 57% CKD (GFR <60 ml/min/1,73m2), 28% cardiopathy, 13% stroke, 49.5% had at least 1 TOD, 67% had 3 or more CRF, and Charlson index was 8.97 ± 2.07. Comparing these patients with 65–80 years, we find no differences for sex, HT, smoking, diabetes and peripheral vascular disease. Patients >80 years had less obesity (p:0.0004; OR:0.57 CI95%: 0.41–0.78), dyslipidemia (p:0.00002, OR:0.53 CI95%: 0.39–0.71), however had a high prevalence of cardiopathy (cardiac insufficiency, myocardial infarction, LVH) (p:0.0002, OR:1.9 CI95%: 1.35–2.76), stroke (p:0.008, OR:1.93 CI95%: 1.17–3.18), CKD (p:0.00001, OR:2.33 CI95%: 1.72–3.15), presence at least 1 TOD (p:0.00001, OR:2.07, CI95%: 1.52–2.80). The BMI is lower (p:0.0003), but had a high number of TOD, CRF and Charlson I. (p:0.00001). Conclusions: HT is very prevalent in our population. Compared to the classic group of > 65 years they have a great number of CRF and TOD. While the magnitude of risk tends to be lower after 65 years, the absolute risk is greater because the CRF are more prevalent and frequently associated with increasing age, which has a multiplier effect. Studies are needed to selectively target this age group while existing information is variable and inconsistent.

BEING OLD IS LIKE TO HAVE MORE VASCULAR RISK?: PP.19.233

Objective: The prevalence of hypertension (HT) in the Spanish population over 60 years is 65%. Guadalajara has an average age of the highest in Spain, so we decided to study the presence of different cardiovascular risk factor (CRF) and the prevalence of target organ damage (TOD). Methods: We registered patients in nephrology consult in 2009. Recording the sex, weight, height, BMI, CRF, TOD (myocardial infarction, heart failure, coronary ischemia, stroke and/or significant impairment of renal function (GFR <60 ml/min/1, 73m2)) and comorbidity (Charlson I.). Statistical analysis was performed using SPSS 17, we use for qualitative variables chi square, for quantitative Student t test. A p value <0.05 was considered statistically significant. Results: There have been 1272 patients, 730 patients >65 years, of which 41.8% are women, BMI was 29.15 ± 4.59, mean age 78.24 ± 6,69, Charlson 3.48 ± 1.99. In patients >65 years have seen a greater percentage of CVR like HT (p = 0.00001, OR:4.11 95% [3,15–5,31]), dyslipidemia (p = 0.014, OR:1.32 IC95% [1,06–1,667]), diabetes (p = 0.00008, OR 2.537 95% [1,93–3,33]), although lower to smoke (p = 0.00001 OR:0.48, 95% [0,38–0,61]), higher percentage TOD with significant decrease in GFR (p = 0, 00001; OR:5,87 95% [4,34–7,49]), cardiac lesion (p = 0.00002, OR:5.89 95% [3,74–9,28]), stroke (p = 0.00009, OR:3.30 95% [1,89–5,75]), peripheral vascular disease (p = 0.001, OR:3.00 95% [1,53–5,86]). In addition patients >65 years have a higher BMI (p = 0.011, 95% CI -1.348 to 0.176), number of CRF (p = 0.00001, 95% CI -1.143 to 0.866), and Charlson I. (p = 0.00001, 95% CI -2.060 to 1.645). (Table 01 and 02). Conclusions: Our study shows that a very high percentage of patients older than 65 have HT, dyslipidemia, diabetes, overweight, the existence of a high prevalence of TOD or subclinic mainly cardiovascular and renal injury than 65 years. Therefore we believe that due to the progressive aging of our population we must undertake more preventive level control on the different factors of CRF. Figure 1. No caption available. Figure 2. No caption available.

VASCULAR RISK AND HYPOTHYROIDISM: PP.15.71

Objective: Hypothyroidism (HYP) is one of the most common chronic disorders. Guadalajara remains like one of the areas with highest prevalence in Spain. Previous studies show strong evidence that HYP (even subclinical) confers increased cardiovascular risk (CVR). Our aim was to determine the relationship between HYP and the prevalence of vascular risk. Design and Method: Cross sectional descriptive study conducted in 2009 in Guadalajara Hospital. We have evaluated the presence of HYP and their relationship with CVR, comorbidity and renal insufficiency. Statistical analysis was making with SPSS 17 and we use percentages, chi square, and Student test. A p value <0.05 was considered statistically significant. Results: There were 1272 patients, 42.75% were women, mean age was 65.92 ± 17.58 years, BMI 28.85 ± 5.18 and Charlson index 2.7 ± 2.05. Patients with HYP were 150 (11.8%). In HYP patients we observe a significant relationship with female gender (p = 0.00002, OR: 3.06 [95% CI 2.13 to 4.39]), smoking (p = 0.00008; OR 0.44 [95% CI 0.29 to 0.67]), dyslipidemia (p = 0.00001, OR 1.89 [95% CI 1.31 to 2.65]), significant deterioration of renal function (GFR <60 ml/min/1, 72m2) (p = 0.0004, OR 1.68 [95% CI 1.17 to 2.42]) and comorbidity (p = 0.003, 95 % -0.532 to 0.178). (Table 01 AND 02). Figure 1. No caption available. Figure 2. No caption available. Conclusions: These findings indicate a high percentage of HYP in nephrology clinic of our hospital. The HYP is clearly related to sex (female), degree of comorbidity, dyslipidemia, diabetes and renal failure, being the last three vascular risk factors of great importance. On the other hand in a manner consistent with other work could have a lower prevalence of HYP in patients who smoke. Future studies should determine the real role of vascular risk in patients with HYP.