Trastornos tiroideos en pacientes adultos con insuficiencia renal crónica / Thyroid disorders in adult patients with chronic renal failure

RESUMEN Introducción: el hipotiroidismo puede asociarse a la insuficiencia renal crónica, solapándose sus síntomas. Objetivo: determinar la frecuencia y características clínicas de los trastornos tiroideos silentes en pacientes adultos con insuficiencia renal crónica. Metodología: estudio observacional, correlacional, prospectivo, multicéntrico. Se incluyeron varones y mujeres, mayores de edad, portadores de insuficiencia renal crónica, que asistieron al Hospital Nacional (Itauguá) y Hospital Militar (Asunción) durante 2020. Los sujetos que dieron su consentimiento fueron sometidos a la determinación del perfil tiroideo. Se incluyeron a sujetos en terapia predialítica y dialítica, se excluyeron a conocidos portadores de enfermedades tiroideas. Se midieron variables demográficas y clínicas. Los datos fueron sometidos a estadística descriptiva y analítica. El protocolo fue aprobado por el Comité de Ética de la Universidad Privada del Este. Resultados: ingresaron al estudio 103 mujeres y 115 varones, con edad media 58 y 57 años, respectivamente. Se halló sobrepeso en 52,4 % y obesidad en 16,6 %. El 66 % se encontraba en estadio 5 de insuficiencia renal y predominó la etiología diabética e hipertensiva. La anemia se encontró en 90 %. Respecto al perfil tiroideo, se encontró 20,2 % en rango normal, 12,4 % en hipotiroidismo clínico, 15,6 % en hipotiroidismo subclínico, 20,2 % con síndrome del enfermo eutiroideo y 31,6 % con síndrome T3 bajo. Se halló asociación significativa entre la depuración de creatinina y los estados tiroideos. Conclusión: en 28 % se halló algún grado de hipotiroidismo. Se recomienda el tamizaje del funcionamiento tiroideo en pacientes con insuficiencia renal crónica.

ABSTRACT Introduction: hypothyroidism can be associated with chronic kidney failure and its symptoms can overlap Objectives: to determine the frequency and clinical characteristics of silent thyroid disorders in adult patients with chronic renal failure. Methodology: we conducted an observational, correlational, prospective, multicenter study. We included adults' men and women, with chronic kidney failure, who attended the National Hospital (Itauguá) and the Military Hospital (Asunción) during 2020. The subjects who gave their consent were invited to the determination of the serum thyroid profile. Subjects in predialytic and dialytic therapy were included. Known carriers of thyroid diseases were excluded. Demographic and clinical variables were measured. We applied descriptive and analytical statistics. The protocol was approved by the Ethics Committee of the Private University of the East. Results: we included 103 women and 115 men, with a mean age of 58 and 57 years, respectively. Overweight was found in 52.4 % and obesity in 16.6 %. In 66 % of the cases the patients were in stage 5 of renal failure. Diabetic and hypertensive origin was the predominated etiology. Anemia was found in 90 %. Regarding the thyroid profile, 20.2 % were found in the normal range, 12.4 % in clinical hypothyroidism, 15.6 % in subclinical hypothyroidism, 20.2 % with euthyroid sick syndrome and 31.6 % with low T3 syndrome. A significant association was found between creatinine clearance and thyroid status. Conclusion: 28 % had some degree of hypothyroidism. Thyroid function screening is recommended in patients with chronic renal failure.

Clinical and Molecular Study of the Extracellular Matrix Protein 1 Gene in a Spanish Family with Lipoid Proteinosis

BACKGROUND: Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by a hoarse voice, variable scarring, and infiltration of the skin and mucosa. This disease is associated with mutations of the gene encoding extracellular matrix protein 1 (ECM1). CASE REPORT: This was a clinical and molecular study of a new case of LP with a severe phenotype. A 35-year-old female born to nonconsanguineous parents developed dermatological and extracutaneous symptoms in her 9th month of life. The neurological abnormalities of the disease began to appear at the age of 19 years. Computed tomography revealed cranial calcifications. CONCLUSIONS: The diagnosis of LP was confirmed by histopathological findings and direct sequencing of ECM1. A new homozygous nonsense mutation was identified in exon 7 of ECM1, c.1076G>A (p.Trp359*). This mutation was not detected in 106 chromosomes of healthy individuals with a similar demographic origin. Microsatellite markers around ECM1 were used to construct the haplotype in both the parents and the patient. Reports on genotype-phenotype correlations in LP point to a milder phenotype in carriers of missense mutations in the Ecm1a isoform, whereas mutations in the Ecm1b isoform are thought to be associated with more severe phenotypes. The present findings in a Spanish patient carrying a truncating mutation in exon 7 revealed complete dermatological and neurological manifestations.