Genetic testing for primary aldosteronism in SPAIN: Results from the SPAIN-ALDO Registry and review of the literature.

PURPOSE: To determine the rate of genetic testing for familial hyperaldosteronism (FH) in the SPAIN-ALDO Registry and to describe the clinical characteristics of patients with FH. In addition, a literature review of reports of FH cases was performed. METHODS: A retrospective multicenter study of primary aldosteronism (PA) in patients followed in 35 Spanish tertiary hospitals (SPAIN-ALDO Registry). RESULTS: Twenty-five of the 855 patients (3%) with PA included in the registry underwent genetic testing for FH, with complete results available in only 24 patients. However, we found that there were 57 patients who met the criteria for performing a genetic study of PA. Only 8 out of these 57 patients were genetically tested (14.0%), while the reasons to perform a genetic study in the remaining 9 genetically studied cases were quite heterogeneous. A positive result for FH was found only in one case for FH type III (KCNJ5 pathogenic variant). A systematic review of the literature was performed and identified a total of 25 articles reporting 246 patients with FH type I; 12 articles reporting 72 patients with FH type II; 14 articles reporting 29 cases of FH type III and 3 articles reporting 12 patients with FH type IV. CONCLUSION: The genetic study of familial hyperaldosteronism is often scarce in real-world clinical practice, as 86% of patients with criteria to undergo genetic study were not evaluated in our cohort. Nevertheless, FH is an uncommon cause of PA, representing only 0.2% of cases in the SPAIN-ALDO Registry, although its prevalence may be as high as 4% among suspected cases might be studied.

Effect of the historic Spanish heatwave over glycemic control in adult patients with type 1 diabetes.

AIM: To evaluate the effect of the historic Spanish heatwave (9th-26th July 2022) over glycemic control in adults with type 1 diabetes (T1D). METHODS: Cross-sectional retrospective analysis of adult patients with T1D in Castilla-La Mancha (south-central Spanish region) using intermittently scanned continuous glucose monitoring (isCGM) during and after the heatwave. Primary outcome was change in time in range (TIR) 3.0-10 mmol/L (70-180 mg/dL) of interstitial glucose in the two weeks following the heatwave. RESULTS: A total of 2701 T1D patients were analyzed. We detected a TIR reduction of 4.0 % (95 % CI -3.4, -4.6; P < 0.001) in the two weeks following the heatwave. Patients in the highest daily scan frequency quartile (>13 scans/day) during the heatwave showed the greatest deterioration in TIR after it concluded (-5.4 % [95 % CI -6.5, -4.3; P < 0.001]). The percentage of patients meeting all the recommendations of the International Consensus of Time in Range was greater during the heatwave than after it ended (10.6 % vs. 8.4 %, P < 0.001). CONCLUSIONS: Adults with T1D had better glycemic control during the historic Spanish heatwave compared to the following period.

Study of germline mutations in patients with pheochromocytoma and paraganglioma in a tertiary level university hospital: Which patients have been studied and what results have been found? / Estudio de mutaciones germinales en pacientes con feocromocitomas y paragangliomas atendidos en un hospital universitario de tercer nivel: ¿qué pacientes se estudian y qué resultados se encuentran?

INTRODUCTION: Current clinical practice guidelines recommend that a genetic study is considered in all patients diagnosed with pheochromocytoma or paraganglioma (PPGL). Our study objective was to know how many patients with PPGL undergo genetic studies at a non-specialized university hospital, the clinical factors involved in the decision to make the study, how many patients are found germline mutation, which are the affected genes, and what variables are related to presence of mutations. MATERIAL AND METHODS: All patients diagnosed with PPGL at a tertiary university hospital from 2010 to 2015 were enrolled. Age and sex, tumor location and multiplicity, hormone secretion, presence of a clinical syndrome, family history, and medical department in charge were recorded and used to compare patients with (GEN+) and without (GEN-) genetic study, as well as patients with (MUT+) and without (MUT-) germline mutations. RESULTS: Thirty-nine patients were enrolled (21 females and 18 males with a mean age of 53.9±17.8 years). A genetic study was performed in 54% of patients with PPGL. These were younger, were more frequently seen by endocrinologists, and had more often a family history related to PPGL, multiple PPGLs, or hormonally functional tumors. Unilateral head and neck paragangliomas were less common. Germline mutations (3 RET, 3 SDHB, 1 SDHD) were found in 33% of patients, who were younger and more frequently had a clinical syndrome, multiple PPGLs. and a family history of PPGL. CONCLUSION: Although current clinical practice guidelines recommend that genetic studies are considered in all patients diagnosed with PPGL, studies was requested for 54% of such cases in our healthcare area. Predisposing germline mutations were found in 33% of studies.