Deficiencia de vitamina D en la edad adulta: presentación de 2 casos familiares de seudohipoparatiroidismo / Vitamin D deficiency in adulthood: Presentation of 2familial cases simulating pseudohypoparathyroidism

Antecedentes y objetivo El solapamiento clínico y bioquímico de diversas enfermedades del metabolismo fosfocálcico puede conllevar un erróneo diagnóstico y su consecuente abordaje clínico. Un ejemplo es el seudohipoparatiroidismo, que puede confundirse con el raquitismo dependiente de vitamina D (VDDR1) si no se hacen las determinaciones bioquímicas adecuadas. Pacientes y métodos Dos parejas de hermanos, de familias independientes, fueron diagnosticados clínicamente en la adolescencia de seudohipoparatiroidismo al presentar hipocalcemia, niveles elevados de hormona paratiroidea y valores normales o elevados de fósforo. Tras descartar alteraciones en GNAS, se realizó un estudio, mediante secuenciación masiva, de genes asociados a otros diagnósticos diferenciales. Resultados Se identificaron 2variantes genéticas en el gen CYP27B1 potencialmente asociadas con el fenotipo. Variantes patogénicas en este gen se asocian con VDDR1A. La reevaluación clínica-bioquímica de los pacientes confirmó dicho diagnóstico y se adecuó el tratamiento. Conclusiones Si bien la VDDR1A es un trastorno del metabolismo de diagnóstico infrecuente en la edad adulta, en casos de hipocalcemia con valores elevados de PTH es relevante la determinación de las formas 1,25(OH)2D3 y 25(OH)D3 de la vitamina D para alcanzar un diagnóstico correcto (AU)

Background and objective The clinical and biochemical overlap of various pathologies of phosphocalcic metabolism can lead to misdiagnosis and consequent clinical management. One example is pseudohypoparathyroidism, which can be confused with vitamin D-dependent rickets (VDDR1) if appropriate biochemical determinations are not performed. Patients and methods Two pairs of siblings, from independent families, were clinically diagnosed in adolescence with pseudohypoparathyroidism due to hypocalcaemia, elevated parathyroid hormone levels and normal or elevated phosphorus values. After ruling out alterations in GNAS, a massive sequencing study of genes associated with other differential diagnoses was carried out. Results Two genetic variants in the CYP27B1 gene potentially associated with the phenotype were identified. Pathogenic variants in this gene are associated with VDDR1A. Clinical-biochemical re-evaluation of the patients confirmed this diagnosis and treatment was adapted. Conclusions Although VDDR1A is an infrequently diagnosed pathology in adulthood, in cases of hypocalcaemia with elevated PTH values, determination of the 1,25(OH)2D3 and 25(OH)D3 forms of vitamin D is relevant to reach a correct diagnosis (AU)

[Vitamin D deficiency in adulthood: Presentation of 2familial cases simulating pseudohypoparathyroidism]. / Deficiencia de vitamina D en la edad adulta: presentación de 2 casos familiares de seudohipoparatiroidismo.

BACKGROUND AND OBJECTIVE: The clinical and biochemical overlap of various pathologies of phosphocalcic metabolism can lead to misdiagnosis and consequent clinical management. One example is pseudohypoparathyroidism, which can be confused with vitamin D-dependent rickets (VDDR1) if appropriate biochemical determinations are not performed. PATIENTS AND METHODS: Two pairs of siblings, from independent families, were clinically diagnosed in adolescence with pseudohypoparathyroidism due to hypocalcaemia, elevated parathyroid hormone levels and normal or elevated phosphorus values. After ruling out alterations in GNAS, a massive sequencing study of genes associated with other differential diagnoses was carried out. RESULTS: Two genetic variants in the CYP27B1 gene potentially associated with the phenotype were identified. Pathogenic variants in this gene are associated with VDDR1A. Clinical-biochemical re-evaluation of the patients confirmed this diagnosis and treatment was adapted. CONCLUSIONS: Although VDDR1A is an infrequently diagnosed pathology in adulthood, in cases of hypocalcaemia with elevated PTH values, determination of the 1,25(OH)2D3 and 25(OH)D3 forms of vitamin D is relevant to reach a correct diagnosis.

Malnutrition in hospitalized patients: results from La Rioja.

BACKGROUND: There is a high malnutrition prevalence in hospitalized patients. AIM: To determine the malnutrition prevalence in hospitalized patients of La Rioja Community (Spain) when evaluated with different screening/ evaluation tools and its relationship with hospital stay and mortality. METHODS: Cross sectional observational study of hospitalized adult patients (age > 18 years old) from medical and surgical departments that underwent within 72 h of their admission a nutritional screening with Malnutrition Universal Screening Tool (MUST), Nutritional Risk Screening (NRS) 2002, Controlling Nutritional Status (CONUT) y Subjective Global Assessment (SGA). RESULTS: 384 patients (273 medical and 111 surgical) were evaluated. Almost fifty percent of them were considered malnourished independently of the screening/assessment tool used. High concordance was found between SGA and NRS-2002 (k = 0.758). Malnourished patients had a longer hospital stay than those well-nourished (9.29 vs. 7.10 days; p = 0.002), used a greater number of medicines (9.2 vs. 7.4; p = 0.001) and underwent a higher number of diagnostic tests (16.4 vs. 12.5; p = 0,002). CONCLUSIONS: Half of the hospitalized patients in the medical and surgical department of La Rioja are malnourished. This is associated with a longer hospital stay, higher use of medicines, diagnostics tests and greater mortality. Malnutrition could be detected with easy screening tools to treat it appropriately.

Malnutrition in hospitalized patients: results from La Rioja / Desnutrición en pacientes hospitalizados: resultados en La Rioja

Background: There is a high malnutrition prevalence in hospitalized patients. Aim: To determine the malnutrition prevalence in hospitalized patients of La Rioja Community (Spain) when evaluated with different screening/ evaluation tools and its relationship with hospital stay and mortality. Methods: Cross sectional observational study of hospitalized adult patients (age > 18 years old) from medical and surgical departments that underwent within 72 h of their admission a nutritional screening with Malnutrition Universal Screening Tool (MUST), Nutritional Risk Screening (NRS) 2002, Controlling Nutritional Status (CONUT) y Subjective Global Assessment (SGA). Results: 384 patients (273 medical and 111 surgical) were evaluated. Almost fifty percent of them were considered malnourished independently of the screening/assessment tool used. High concordance was found between SGA and NRS-2002 (k = 0.758). Malnourished patients had a longer hospital stay than those well-nourished (9.29 vs. 7.10 days; p = 0.002), used a greater number of medicines (9.2 vs. 7.4; p = 0.001) and underwent a higher number of diagnostic tests (16.4 vs. 12.5; p = 0,002). Conclusions: Half of the hospitalized patients in the medical and surgical department of La Rioja are malnourished. This is associated with a longer hospital stay, higher use of medicines, diagnostics tests and greater mortality. Malnutrition could be detected with easy screening tools to treat it appropriately (AU)

Antecedentes: existe una alta prevalencia de malnutrición en los pacientes hospitalizados. Objetivo: conocer la prevalencia de la desnutrición en la comunidad de La Rioja con distintos métodos de cribado/valoración nutricional y su relación con la estancia media y mortalidad. Métodos: estudio transversal de 384 pacientes mayores de 18 años (273 pacientes en servicios médicos y 111 en servicios quirúrgicos), a los que se les realizó en las primeras 72 horas del ingreso un cribado/valoración nutricional con MUST (Malnutrition Universal Screening Tool), NRS-2002 (Nutritional Risk Screening), CONUT (Controlling Nutritional Status) y VGS (Subjective Global Assessment). Resultados: la desnutrición fue observada en más del 50% de los pacientes independientemente del método de cribado/valoración nutricional utilizado. Existe una fuerte concordancia entre la VGS y el NRS-2002. La desnutrición se relaciona con aumento de la estancia hospitalaria (9,29 vs. 7,10 días; p = 0,002), mayor consumo de fármacos (9,2 vs. 7,4; p = 0,001) y mayor consumo de pruebas diagnósticas durante la estancia hospitalaria (16,4 vs. 12,5; p = 0,002). Conclusiones: uno de cada dos pacientes hospitalizados en la comunidad de La Rioja está desnutrido. La desnutrición se relaciona con aumento de la estancia hospitalaria, aumento de la utilización de pruebas diagnósticas, mayor consumo de medicamentos y aumento de la mortalidad. La desnutrición puede ser detectada con medidas de cribado nutricional sencillas que permitirían tratarla adecuadamente (AU)