Gabriel de Arriba

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.

Present and Future in the Treatment of Diabetic Kidney Disease

Diabetic kidney disease is the leading cause of end-stage renal disease. Albuminuria is recognized as the most important prognostic factor for chronic kidney disease progression. For this reason, blockade of renin-angiotensin system remains the main recommended strategy, with either angiotensin converting enzyme inhibitors or angiotensin II receptor blockers. However, other antiproteinuric treatments have begun to be studied, such as direct renin inhibitors or aldosterone blockers. Beyond antiproteinuric treatments, other drugs such as pentoxifylline or bardoxolone have yielded conflicting results. Finally, alternative pathogenic pathways are being explored, and emerging therapies including antifibrotic agents, endothelin receptor antagonists, or transcription factors show promising results. The aim of this review is to explain the advances in newer agents to treat diabetic kidney disease, along with the background of the renin-angiotensin system blockade.

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.

El bisfenol A: un factor ambiental implicado en el daño nefrovascular

Ricardo J. Bosch, Borja Quiroga, Carmen Muñoz-Moreno, Nuria Olea-Herrero, María Isabel Arenas , Marta González-Santander, Paula Reventún , Carlos Zaragoza , Gabriel de Arriba y Marta Saura e a Laboratorio de Fisiología Renal y Nefrología Experimental, Unidad de Fisiología, Departamento de Biología de Sistemas, Universidad de Alcalá, Alcalá de Henares, España b Servicio de Nefrología, Hospital Universitario de Guadalajara, Guadalajara, España c Unidad de Biología Celular, Departamento de Biomedicina y Biotecnología, Universidad de Alcalá, Alcalá de Henares, España d Departamento de Medicina y Especialidades Médicas, Universidad de Alcalá, Alcalá de Henares, España e Laboratorio de Fisiopatología de la Pared Vascular, Unidad de Fisiología, Departamento de Biología de Sistemas, Universidad de Alcalá, Alcalá de Henares, España f Laboratorio de Fisiopatología Cardiovascular, Unidad de Investigación Translacional, Facultad de Medicina, Universidad Francisco de Vitoria, Madrid, España

Online Hemodiafiltration Reduces Bisphenol A Levels

Several uremic toxins have been identified and related to higher rates of morbidity and mortality in dialysis patients. Bisphenol A (BPA) accumulates in patients with chronic kidney disease. The aim of this study is to demonstrate the usefulness of online hemodiafiltration (OL‐HDF) in reducing BPA levels. Thirty stable hemodialysis patients were selected to participate in this paired study. During three periods of 3 weeks each, patients were switched from high‐flux hemodialysis (HF‐HD) to OL‐HDF, and back to HF‐HD. BPA levels were measured in the last session of each period (pre‐ and post‐dialysis) using ELISA and HPLC. Twenty‐two patients (mean age 73 ± 14 years; 86.4% males) were included. Measurements of BPA levels by HPLC and ELISA assays showed a weak but significant correlation (r = 0.218, P = 0.012). BPA levels decreased in the OL‐HDF period of hemodialysis, in contrast to the HF‐HD period when they remained stable (P = 0.002). In conclusion, OL‐HDF reduced BPA levels in dialysis patients.

Glomerulonefritis extracapilar y lepra: una asociación infrecuente

eprosy is a chronic disease caused by the intracellular bacilus Mycobacterium leprae, which primarily affects the skin and eripheral nerves.1 The clinical picture is variable; there are aucibacillary forms with few lesions (tuberculoid leprosy), nd multibacillary forms with numerous lesions (lepromaous leprosy), which occurs in patients with impaired cellular mmunity.2 The presence of extracapillary glomerulonephritis ith leprosy is rare, and here we describe the case of a patient ith both diseases. This was a 79-year-old man diagnosed of leprosy at age 32, ith both neurological and cutaneous involvement. He was dmitted in March 2011 with oedema, haematuria, and worsning of renal function. On examination, he was noted to have eonine facies, loss of eyebrows, and a saddle nose. His skin as rough with xerostomia and thickening, and there were rythematous macules on the limbs. BP was 168/104. Venous ressure was elevated, and there were bibasal crepitations and eripheral oedema. There was reduced sensibility to touching nd pain in the limbs. Blood test revealed a haemoglobin of 11.9 g/dL, leukocytes 660/mm3, platelets 173,000/mm3, creatinine 2.31 mg/dL, and rea 93 mg/dL. Transaminases, LDH, CK, cholesterol, triglyceides, HDL, and LDL, were normal. Urinary sediment had >100 ed blood cells per field (90% dysmorphic), with a 24 h proteinria of 1.3 g. Serology was negative for HIV, hepatitis B and C irus. ANA, ANCA, and anti-glomerular basement membrane ntibodies were negative, and C3 and C4 were normal. Chest -ray showed vascular redistribution and a left-sided pleual effusion. Abdominal ultrasound showed kidneys of normal ize with increased cortical echogenicity with no other abnoralities.