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1.
Arch. argent. pediatr ; 121(4): e202202835, ago. 2023. ilus
Artículo en Inglés, Español | LILACS, BINACIS | ID: biblio-1443060

RESUMEN

La hipertensión arterial (HTA) grave en pediatría responde fundamentalmente a causas secundarias. Presentamos una paciente adolescente de 14 años con HTA grave, alcalosis metabólica e hipopotasemia, secundaria a un tumor de células yuxtaglomerulares productor de renina, diagnosticado luego de dos años de evolución de HTA.


Severe arterial hypertension (HTN) in pediatrics is mainly due to secondary causes. Here we describe the case of a 14-year-old female adolescent with severe HTN, metabolic alkalosis, and hypokalemia, secondary to a renin-secreting juxtaglomerular cell tumor diagnosed after 2 years of HTN progression.


Asunto(s)
Humanos , Femenino , Adolescente , Hipertensión/etiología , Hipopotasemia/complicaciones , Neoplasias Renales/complicaciones , Neoplasias Renales/diagnóstico , Renina/metabolismo , Aparato Yuxtaglomerular/metabolismo , Aparato Yuxtaglomerular/patología
2.
Acta Physiologica Sinica ; (6): 216-230, 2023.
Artículo en Chino | WPRIM | ID: wpr-980999

RESUMEN

Virtually all of the dietary potassium intake is absorbed in the intestine, over 90% of which is excreted by the kidneys regarded as the most important organ of potassium excretion in the body. The renal excretion of potassium results primarily from the secretion of potassium by the principal cells in the aldosterone-sensitive distal nephron (ASDN), which is coupled to the reabsorption of Na+ by the epithelial Na+ channel (ENaC) located at the apical membrane of principal cells. When Na+ is transferred from the lumen into the cell by ENaC, the negativity in the lumen is relatively increased. K+ efflux, H+ efflux, and Cl- influx are the 3 pathways that respond to Na+ influx, that is, all these 3 pathways are coupled to Na+ influx. In general, Na+ influx is equal to the sum of K+ efflux, H+ efflux, and Cl- influx. Therefore, any alteration in Na+ influx, H+ efflux, or Cl- influx can affect K+ efflux, thereby affecting the renal K+ excretion. Firstly, Na+ influx is affected by the expression level of ENaC, which is mainly regulated by the aldosterone-mineralocorticoid receptor (MR) pathway. ENaC gain-of-function mutations (Liddle syndrome, also known as pseudohyperaldosteronism), MR gain-of-function mutations (Geller syndrome), increased aldosterone levels (primary/secondary hyperaldosteronism), and increased cortisol (Cushing syndrome) or deoxycorticosterone (hypercortisolism) which also activate MR, can lead to up-regulation of ENaC expression, and increased Na+ reabsorption, K+ excretion, as well as H+ excretion, clinically manifested as hypertension, hypokalemia and alkalosis. Conversely, ENaC inactivating mutations (pseudohypoaldosteronism type 1b), MR inactivating mutations (pseudohypoaldosteronism type 1a), or decreased aldosterone levels (hypoaldosteronism) can cause decreased reabsorption of Na+ and decreased excretion of both K+ and H+, clinically manifested as hypotension, hyperkalemia, and acidosis. The ENaC inhibitors amiloride and Triamterene can cause manifestations resembling pseudohypoaldosteronism type 1b; MR antagonist spironolactone causes manifestations similar to pseudohypoaldosteronism type 1a. Secondly, Na+ influx is regulated by the distal delivery of water and sodium. Therefore, when loss-of-function mutations in Na+-K+-2Cl- cotransporter (NKCC) expressed in the thick ascending limb of the loop and in Na+-Cl- cotransporter (NCC) expressed in the distal convoluted tubule (Bartter syndrome and Gitelman syndrome, respectively) occur, the distal delivery of water and sodium increases, followed by an increase in the reabsorption of Na+ by ENaC at the collecting duct, as well as increased excretion of K+ and H+, clinically manifested as hypokalemia and alkalosis. Loop diuretics acting as NKCC inhibitors and thiazide diuretics acting as NCC inhibitors can cause manifestations resembling Bartter syndrome and Gitelman syndrome, respectively. Conversely, when the distal delivery of water and sodium is reduced (e.g., Gordon syndrome, also known as pseudohypoaldosteronism type 2), it is manifested as hypertension, hyperkalemia, and acidosis. Finally, when the distal delivery of non-chloride anions increases (e.g., proximal renal tubular acidosis and congenital chloride-losing diarrhea), the influx of Cl- in the collecting duct decreases; or when the excretion of hydrogen ions by collecting duct intercalated cells is impaired (e.g., distal renal tubular acidosis), the efflux of H+ decreases. Both above conditions can lead to increased K+ secretion and hypokalemia. In this review, we focus on the regulatory mechanisms of renal potassium excretion and the corresponding diseases arising from dysregulation.


Asunto(s)
Humanos , Síndrome de Bartter/metabolismo , Seudohipoaldosteronismo/metabolismo , Potasio/metabolismo , Aldosterona/metabolismo , Hipopotasemia/metabolismo , Síndrome de Gitelman/metabolismo , Hiperpotasemia/metabolismo , Relevancia Clínica , Canales Epiteliales de Sodio/metabolismo , Túbulos Renales Distales/metabolismo , Sodio/metabolismo , Hipertensión , Alcalosis/metabolismo , Agua/metabolismo , Riñón/metabolismo
3.
Journal of Peking University(Health Sciences) ; (6): 186-189, 2023.
Artículo en Chino | WPRIM | ID: wpr-971294

RESUMEN

Severe hypokalemia is defined as the concentration of serum potassium lower than 2.5 mmol/L, which may lead to serious arrhythmias and cause mortality. We report an unusual case of potentially fatal ventricular arrhythmias induced by severe hypokalemia in a patient undergoing laparoscopic partial nephrectomy in Peking University Third Hospital due to irregular use of indapamide before operation. Indapamide is a sulfonamide diuretic with vasodilative and calcium antagonistic effects, which enhances sodium delivery to the renal distal tubules resulting in a dose-related increase in urinary potassium excretion and decreases serum potassium concentrations. The electrolyte disorder caused by the diuretic is more likely to occur in the elderly patients, especially those with malnutrition or long-term fasting. Hence, the serum potassium concentration of the patients under indapamide therapy, especially elderly patients, should be monitored carefully. Meanwhile, the potassium concentration measured by arterial blood gas analysis is different from that measured by venous blood or laboratory test. According to the previous research, the concentration of potassium in venous blood was slightly higher than that in arterial blood, and the difference value was 0.1-0.5 mmol/L. This error should be taken into account when rapid intravenous potassium supplementation or reduction of blood potassium level was carried out clinically. In the correction of severe hypokalemia, the standard approach often did not work well for treating severe hypokalemia. The tailored rapid potassium supplementation strategy shortened the time of hypokalemia and was a safe and better treatment option to remedy life-threatening arrhythmias caused by severe hypokalemia with a high success rate. Through the anesthesia management of this case, we conclude that for the elderly patients who take indapamide or other potassium excretion diuretics, the electrolyte concentration and the general volume state of the patients should be comprehensively measured and fully evaluated before operation. It may be necessary for us to reexamine the serum electrolyte concentration before anesthesia induction on the morning of surgery in patients with the history of hypokalemia. For severe hypokalemia detected after anesthesia, central venous cannulation access for individualized rapid potassium supplementation is an effective approach to reverse the life-threatening arrhythmias caused by severe hypokalemia and ensure the safety of the patients.


Asunto(s)
Humanos , Anciano , Hipopotasemia/complicaciones , Indapamida/efectos adversos , Arritmias Cardíacas/terapia , Diuréticos/efectos adversos , Potasio , Electrólitos/efectos adversos , Anestesia General/efectos adversos
4.
Chinese Journal of Medical Genetics ; (6): 166-170, 2023.
Artículo en Chino | WPRIM | ID: wpr-970898

RESUMEN

OBJECTIVE@#To explore the clinical characteristics and genetic basis for three children with Congenital chlorine diarrhea (CCD).@*METHODS@#Three children with CCD who attended the Affiliated Children's Hospital of Capital Pediatric Institute from June 2014 to August 2020 were selected as the research subjects. Peripheral blood samples of the three children and their parents were collected for genetic testing. And the results were verified by Sanger sequencing.@*RESULTS@#The clinical manifestations of the three children have included recurrent diarrhea, with various degrees of hypochloremia, hypokalemia and refractory metabolic alkalosis. Genetic testing revealed that the three children have all carried variants of the SLC26A3 gene, including homozygous c.1631T>A (p.I544N) variants, c.2063_1G>T and c.1039G>A (p.A347T) compound heterozygous variants, and c.270_271insAA(p.G91kfs*3) and c.2063_1G>T compound heterozygous variants. Sanger sequencing confirmed that all of the variants were inherited from their parents.@*CONCLUSION@#The variants of the SLC26A3 gene probably underlay the CCD in these children. Above finding has enriched the spectrum of SLC26A3 gene variants.


Asunto(s)
Humanos , Niño , Cloro , Pruebas Genéticas , Hipopotasemia/genética , Homocigoto , Diarrea/genética , Mutación
5.
Chinese Medical Journal ; (24): 213-220, 2023.
Artículo en Inglés | WPRIM | ID: wpr-970060

RESUMEN

BACKGROUND@#The clinical importance of hypokalemia is likely underrecognized in Chinese dialysis patients, and whether its clinical effect was mediated by serum albumin is not fully elucidated. This study aimed to explore the association between serum potassium and mortality in dialysis patients of a Chinese nationwide multicenter cohort, taking albumin as a consideration.@*METHODS@#This was a prospective nation-wide multicenter cohort study. Restricted cubic splines were used to test the linearity of serum potassium and relationships with all-cause (AC) and cardiovascular (CV) mortality and a subsequent two-line piecewise linear model was fitted to approach the nadir. A mediation analysis was performed to examine relations of albumin to potassium and mortalities.@*RESULTS@#A total of 10,027 patients were included, of whom 6605 were peritoneal dialysis and 3422 were hemodialysis patients. In the overall population, the mean age was 51.7 ± 14.8 years, 55.3%(5546/10,027) were male, and the median dialysis vintage was 13.60 (4.70, 39.70) months. Baseline serum potassium was 4.30 ± 0.88 mmol/L. After a median follow-up period of 26.87 (14.77, 41.50) months, a U-shape was found between potassium and mortality, and a marked increase in risk at lower potassium but a moderate elevation in risk at higher potassium were observed. The nadir for AC mortality risk was estimated from piecewise linear models to be a potassium concentration of 4.0 mmol/L. Interestingly, the significance of the association between potassium and mortality was attenuated when albumin was introduced into the extended adjusted model. A subsequent significant mediation by albumin for potassium and AC and CV mortalities were found ( P < 0.001 for both), indicating that hypokalemia led to higher mortality mediated by low serum albumin, which was a surrogate of poor nutritional status and inflammation.@*CONCLUSIONS@#Associations between potassium and mortalities were U-shaped in the overall population. The nadir for AC mortality risk was at a potassium of 4.0 mmol/L. Serum albumin mediated the association between potassium and AC and CV mortalities.


Asunto(s)
Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pueblos del Este de Asia , Hipopotasemia/etiología , Fallo Renal Crónico/mortalidad , Potasio/sangre , Estudios Prospectivos , Diálisis Renal , Albúmina Sérica/análisis
6.
Philippine Journal of Internal Medicine ; : 72-76, 2023.
Artículo en Inglés | WPRIM | ID: wpr-984333

RESUMEN

Introduction@#Gitelman Syndrome (GS), a rare autosomal recessive inherited disorder, is frequently unrecognized in the clinical setting. GS typically manifests with severe hypokalemia with debilitating and potentially fatal consequences if untreated. As of writing, confirmatory genetic assays are currently unavailable in the country, and the diagnosis of GS is primarily based on several biochemical laboratory tests. This results in the difficulty with prompt diagnosis of GS in the locality.@*Case@#We present a 52-year-old male who came in with chronic, intermittent paraparesis associated with persistent hypokalemia. A diagnosis of GS was made biochemically based on renal wasting of potassium and magnesium, hypocalciuria, and metabolic alkalosis. Electrolyte correction with lifelong supplementation, and administration of Spironolactone resulted in the resolution of bilateral leg weakness. Electrolyte levels were maintained within normal limits in the outpatient setting.@*Conclusion@#GS is an uncommon potentially debilitating disorder that may lead to problematic, potentially fatal consequences to electrolyte abnormalities if left untreated. The lack of awareness and consequent delay in the diagnosis, and the unavailability of confirmatory genetic testing remains a clinical challenge. Timely recognition and initiation of treatment leads to early control of electrolyte levels, and better prognosis.


Asunto(s)
Paraparesia , Hipopotasemia , Espironolactona
7.
Chinese Journal of Medical Genetics ; (6): 1409-1413, 2023.
Artículo en Chino | WPRIM | ID: wpr-1009313

RESUMEN

OBJECTIVE@#To report the clinical and genetic characteristics of a rare case of Gitelman syndrome with comorbid Graves disease and ACTH-independent adrenocortical adenoma.@*METHODS@#A patient who had presented at the Nanchong Central Hospital on December 21, 2020 was selected as the study subject. Clinical data of the patient was collected. Whole-exome sequencing was carried out on DNA extracted from peripheral venous blood samples from the patient and her family members.@*RESULTS@#The patient, a 45-year-old woman, was found to have Graves disease, ACTH-independent Cushing syndrome, hypokalemia and hypomagnesemia following the discovery of an adrenal incidentaloma. MRI scan had revealed a 3.8 cm × 3.2 cm mass in the left adrenal gland. The mass was removed by surgery and confirmed as adrenocortical adenoma. DNA sequencing revealed that the patient and her sister have both harbored compound heterozygous variants of the SLC12A3 gene, namely c.1444-10(IVS11)G>A and c.179(exon1)C>T (p.T60M), which were respectively inherited from their father and mother. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.1444-10(IVS11)G>A and c.179(exon1)C>T (p.T60M) were respectively classified as a variant of uncertain significance (PM2_Supporting+PP3) and a likely pathogenic variant (PM3_Strong+PM1+PP3).@*CONCLUSION@#The conjunction of Gitelman syndrome with Graves disease and adrenal cortex adenoma is rather rare. The newly discovered c.1444-10(IVS11)G>A variant of the SLC12A3 gene, together with the heterozygous variant of c.179(exon1)C>T (p.T60M), probably underlay the pathogenesis in this patient.


Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Síndrome de Gitelman/genética , Adenoma Corticosuprarrenal , Hipopotasemia , Enfermedad de Graves/genética , Madres , Mutación , Miembro 3 de la Familia de Transportadores de Soluto 12
8.
Chinese Journal of Medical Genetics ; (6): 1275-1279, 2023.
Artículo en Chino | WPRIM | ID: wpr-1009288

RESUMEN

OBJECTIVE@#To explore the clinical features and genetic etiology of a patient with primary distal renal tubular acidosis (dRTA).@*METHODS@#A child who was diagnosed with primary dRTA at the Xi'an Children's Hospital in April 2021 due to poor appetite and persistent crying was selected as the study subject. Clinical data of the patient was collected. Whole exome sequencing (WES) was carried out for the child. Candidate variants were validated by Sanger sequencing of his family members.@*RESULTS@#The child, a 1-month-and-18-day male, had featured poor appetite, persistent crying, poor weight gain and dehydration. Laboratory examination has suggested metabolic acidosis, hyperchloremia, hypokalemia, abnormal alkaline urine and anemia. Ultrasonographic examination of the urinary system revealed calcium deposition in renal medulla. DNA sequencing revealed that he has harbored compound heterozygous variants of the ATP6V0A4 gene, namely c.1363dupA (p.M455NfsX14) and c.2257C>T (p.Q753X), which were respectively inherited from his father and mother. Based on the guidelines from the American College of Medical Genetics and Genomics, both variants were classified as pathogenic (PVS1+PM3+PM2_Supporting).@*CONCLUSION@#The compound heterozygous variants of c.1363dupA (p.M455NfsX14) and c.2257C>T (p.Q753X) of the ATP6V0A4 gene probably underlay the pathogenesis of primary dRTA in this patient. Discovery of the c.2257C>T (p.Q753X) variant has also expanded the mutational spectrum of the ATP6V0A4 gene.


Asunto(s)
Humanos , Masculino , Lactante , Acidosis Tubular Renal/genética , Familia , Genómica , Hipopotasemia
9.
Health sci. dis ; 23(11): 108-110, 2022. figures, tables
Artículo en Francés | AIM | ID: biblio-1398950

RESUMEN

Cette observation illustre un tableau de pseudo-hyperaldostéronisme primaire par intoxication à la réglisse révélé par une hypokaliémie sévère chez un monsieur de 56 ans dans un contexte d'HTA de découverte récente. L'interrogatoire a retrouvé une notion de consommation régulière quotidienne de pastis sans alcool d'environ un litre et le bilan endocrinien a trouvé une activité rénine plasmatique effondrée et une hypoaldostéronémie. L'hypokaliémie et l'HTA ont régressé au bout de trois mois avec l'arrêt de la consommation du pastis et à distance de tout traitement antihypertenseur. Les abus de la réglisse sont rarement mentionnés spontanément par les patients ou sont ignorés d'eux, d'où l'intérêt d'une anamnèse minutieuse


This patient illustrates a case of primary pseudo-hyperaldosteronism due to licorice intoxication revealed by severe hypokalemia in a 56-year-old man with newly discovered hypertension. Past medical history revealed a notion of regular consumption of pastis without alcohol (about one liter per day) and hormonal assessment showed a collapsed plasma renin activity and hypoaldosteronemia. Hypokalaemia and hypertension resolved three months after cessation of pastis consumption, without any antihypertensive treatment. The abuse of licorice is rarely mentioned spontaneously by patients or is ignored by them, hence the interest of a careful medical history.


Asunto(s)
Intoxicación , Glycyrrhiza , Hipertensión , Hipopotasemia
10.
Rev. bras. hipertens ; 28(4): 288-292, 10 dez. 2021.
Artículo en Portugués | LILACS | ID: biblio-1367466

RESUMEN

O potássio tem função fisiológica fundamental no volume intracelular e na manutenção funcional de nervos e músculos. Distúrbios do potássio são comuns e estão associados a aumento na mortalidade nos portadores de doenças cardiovasculares, entre elas a hipertensão arterial. Assim a manutenção de um equilíbrio entre o potássio intra e extracelular é de fundamental importância para nervos, músculos e o sistema cardiovascular. Há décadas os diuréticos tiazídicos são uma das principais drogas utilizadas no tratamento da hipertensão arterial. Entre suas principais reações adversas relacionam-se os distúrbios eletrolíticos e metabólicos, os quais se tornaram menos frequentes com o uso de doses menores do que as habitualmente empregadas no seu início. Neste artigo os principais efeitos adversos do uso crônico dos diuréticos tiazídicos bem como suas consequências serão discutidos.


Potassium has a fundamental physiological function without intracellular volume and in the functional maintenance of nerves and muscles. Potassium disorders are common and are associated with increased mortality in patients with cardiovascular diseases, including hypertension. Thus, maintaining a balance between intracellular and extracellular potassium is of fundamental importance for the nerves, muscles and cardiovascular system. Thiazide diuretics have been one of the main drugs used in the treatment of hypertension for decades. Among its main adverse reactions are related electrolyte and metabolic disturbances, which become less frequent with the use of lower doses than those usually used at the beginning. In this article, the main adverse effects of the chronic use of thiazide diuretics as well as their consequences will be discussed.


Asunto(s)
Humanos , Inhibidores de los Simportadores del Cloruro de Sodio/efectos adversos , Hipopotasemia
11.
Arch. pediatr. Urug ; 92(2): e305, dic. 2021. tab
Artículo en Español | LILACS, BNUY, UY-BNMED | ID: biblio-1278305

RESUMEN

Las afecciones respiratorias agudas son la primera causa de consulta e ingreso hospitalario en los meses de invierno, y entre ellas el asma ocupa un lugar preponderante. El salbutamol es un broncodilatador con eficacia demostrada en las exacerbaciones y se utiliza de primera línea en el tratamiento. El objetivo de la presente comunicación es analizar dos casos clínicos de niños asmáticos que presentaron efectos adversos al salbutamol y requirieron el ingreso en la Unidad de Terapia Intensiva. Se propone revisar los efectos adversos del salbutamol empleado en crisis asmáticas y analizar las alternativas terapéuticas en esta enfermedad. Los síntomas de los efectos secundarios pueden confundirse con los causados por la propia enfermedad, por lo que puede usarse el fármaco de modo excesivo y es importante conocer el perfil posológico y caracterizar los posibles efectos secundarios en los pacientes para usar de manera racional y segura este medicamento.


Acute respiratory conditions are the first cause of consultation and hospital admission in the Winter months, being asthma the most important. Salbutamol is a bronchodilator with proven efficacy in exacerbations used first-line in treatment. The objective of this paper is to analyze two clinical cases of asthmatic children who presented adverse effects to salbutamol and required admission to the Intensive Care Unit. It is proposed to review the adverse effects of salbutamol used in asthmatic crises and to analyze therapeutic alternatives in this disease. Symptoms of side effects can be confused with those caused by the disease itself, determining the excessive use of this drug, thus, it is important to know the dosage profile and characterize the possible side effects to make rational and safe use of this drug.


As doenças respiratórias agudas são a primeira causa de consultas e internações nos meses de inverno e a asma ocupa é a mais importante. O salbutamol é um broncodilatador com eficácia comprovada nas exacerbações e é usado como tratamento de primeira linha. O objetivo desta comunicação é analisar dois casos clínicos de crianças asmáticas que apresentaram efeitos adversos ao salbutamol e necessitaram de internação em Unidade de Terapia Intensiva. Propõe-se revisar os efeitos adversos do salbutamol utilizado na crise asmática e analisar as alternativas terapêuticas nessa doença. Os sintomas de efeitos colaterais podem ser confundidos com os causados pela própria doença, determinando o uso excessivo desse medicamento, sendo importante conhecer o perfil posológico e caracterizar os possíveis efeitos colaterais nos pacientes para fazer um uso racional e seguro desse medicamento.


Asunto(s)
Humanos , Masculino , Femenino , Preescolar , Niño , Acidosis Láctica , Broncodilatadores/efectos adversos , Albuterol/efectos adversos , Hiperglucemia/inducido químicamente , Hipopotasemia/inducido químicamente , Agitación Psicomotora/etiología , Recurrencia , Asma/tratamiento farmacológico , Taquicardia/inducido químicamente , Temblor/inducido químicamente , Alucinaciones/inducido químicamente
12.
Iatreia ; 34(2): 151-155, abr.-jun. 2021.
Artículo en Español | LILACS | ID: biblio-1250065

RESUMEN

RESUMEN La hipomagnesemia es un trastorno electrolítico asociado con la disminución de los aportes nutricionales, las pérdidas gastrointestinales y la depuración renal del magnesio, un catión divalente que, al tener una mayor concentración a nivel intracelular, dificulta el análisis de su déficit absoluto y el establecimiento de una adecuada corrección que supla las pérdidas y los requerimientos diarios que son aproximadamente 360 mg por día. Es por esto que el conocimiento de las etiologías de la hipomagnesemia, al igual que el cálculo de la fracción excretada de magnesio y la medición de la magnesiuria en 24 horas, son herramientas útiles para establecer pautas adecuadas de corrección continua de magnesio con el fin de evitar las complicaciones asociadas con su toxicidad o una corrección deficiente que perpetúe dicho trastorno electrolítico, lo cual puede generar una sintomatología tan grave como la tetania o la insuficiencia respiratoria. La paciente descrita, en ausencia de estado de choque o trastorno ácido base, requirió ingreso a la unidad de cuidados intensivos para ventilación mecánica invasiva y corrección de sus trastornos electrolíticos asociados con la colitis ulcerativa (hipocalcemia, hipocalemia e hipomagnesemia).


SUMMARY Hypomagnesemia is an electrolyte disorder associated with decreased nutritional intake, gastrointestinal losses, and renal clearance of magnesium, a divalent cation that, having a higher concentration at the intracellular level, makes it difficult to analyze its absolute deficit and establish an adequate correction that supplies daily losses and requirements; For this reason, knowledge of the etiologies of hypomagnesemia, as well as the calculation of the excreted fraction of magnesium and measurement of magnesiuria in 24 hours, are useful tools to establish adequate guidelines for continuous magnesium correction, in order to avoid complications associated with its toxicity or poor correction that perpetuates this electrolyte disorder, and generates the appearance of symptoms as severe as tetany and ventilatory failure. These severe manifestations were present in the patient described, who, in the absence of shock or base acid disorder, required admission to the intensive care unit for invasive mechanical ventilation and correction of their electrolyte disorders associated with ulcerative colitis (hypocalcemia, hypokalemia, and hypomagnesemia).


Asunto(s)
Humanos , Insuficiencia Respiratoria , Hipocalcemia , Hipopotasemia , Informe de Investigación , Magnesio
13.
Chinese Journal of Medical Genetics ; (6): 526-530, 2021.
Artículo en Chino | WPRIM | ID: wpr-879618

RESUMEN

OBJECTIVE@#To summarize clinical manifestations and results of genetic testing in 12 children with Gitelman syndrome (GS).@*METHODS@#Clinical data of the children was collected. Whole exome sequencing(WES) was carried out to screen potential variants of genomic DNA. Candidate variants were verified by Sanger sequencing.@*RESULTS@#The patients have included 10 boys and 2 girls, whom were diagnosed at between 2.8 to 15.0 year old. Six patients were due to infections, 5 were due to short stature, and 1 was due to lower limb weakness. All patients were found to carry variants of SLC12A3 gene, which included 11 with compound heterozygous variants and 1 with homozygous variant. All of the 19 alleles of the SLC12A3 gene carried by the patients were delineated, which included 15 missense variants, 2 frameshift variants and 2 splice region variants. These variants were unreported previously, which included c.578_582dupCCACC (p.Asn195Profs*109), c.251C>T (p.Pro84Leu) and c.2843G>A (p.Trp948X).@*CONCLUSION@#The clinical symptoms of GS in children are atypical and often seen in older children. For children with occasional hypokalemia associated with growth failure, GS should be suspected. The majority of GS children carry two pathogenic variants of the SLC12A3 gene, mainly compound heterozygotes, among which p.Thr60Met is the most common one. The discovery of new variants has enriched the spectrum of SLC12A3 gene variants.


Asunto(s)
Adolescente , Niño , Preescolar , Femenino , Humanos , Masculino , ADN , Pruebas Genéticas , Síndrome de Gitelman/genética , Hipopotasemia/genética , Miembro 3 de la Familia de Transportadores de Soluto 12/genética
14.
Chinese Journal of Contemporary Pediatrics ; (12): 1276-1281, 2021.
Artículo en Inglés | WPRIM | ID: wpr-922247

RESUMEN

A boy, aged 1 year and 6 months, was found to have persistent positive urine glucose at the age of 4 months, with polydipsia, polyuria, and growth retardation. Laboratory examinations suggested that the boy had low specific weight urine, anemia, hypokalemia, hyponatremia, hypomagnesemia, metabolic acidosis, glycosuria, acidaminuria, increased fractional excretion of potassium, and decreased tubular reabsorption of phosphate. X-ray examinations of the head, thorax, and right hand showed changes of renal rickets. The slit-lamp examination showed a large number of cystine crystals in the cornea. The genetic testing showed a suspected pathogenic homozygous mutation of the


Asunto(s)
Humanos , Lactante , Masculino , Sistemas de Transporte de Aminoácidos Neutros/genética , Córnea , Cistinosis/genética , Hipopotasemia , Mutación , Enfermedades Raras
15.
Chinese Medical Journal ; (24): 2333-2339, 2021.
Artículo en Inglés | WPRIM | ID: wpr-921110

RESUMEN

BACKGROUND@#A deep learning model (DLM) that enables non-invasive hypokalemia screening from an electrocardiogram (ECG) may improve the detection of this life-threatening condition. This study aimed to develop and evaluate the performance of a DLM for the detection of hypokalemia from the ECGs of emergency patients.@*METHODS@#We used a total of 9908 ECG data from emergency patients who were admitted at the Second Affiliated Hospital of Nanchang University, Jiangxi, China, from September 2017 to October 2020. The DLM was trained using 12 ECG leads (lead I, II, III, aVR, aVL, aVF, and V1-6) to detect patients with serum potassium concentrations <3.5 mmol/L and was validated using retrospective data from the Jiangling branch of the Second Affiliated Hospital of Nanchang University. The blood draw was completed within 10 min before and after the ECG examination, and there was no new or ongoing infusion during this period.@*RESULTS@#We used 6904 ECGs and 1726 ECGs as development and internal validation data sets, respectively. In addition, 1278 ECGs from the Jiangling branch of the Second Affiliated Hospital of Nanchang University were used as external validation data sets. Using 12 ECG leads (leads I, II, III, aVR, aVL, aVF, and V1-6), the area under the receiver operating characteristic curve (AUC) of the DLM was 0.80 (95% confidence interval [CI]: 0.77-0.82) for the internal validation data set. Using an optimal operating point yielded a sensitivity of 71.4% and a specificity of 77.1%. Using the same 12 ECG leads, the external validation data set resulted in an AUC for the DLM of 0.77 (95% CI: 0.75-0.79). Using an optimal operating point yielded a sensitivity of 70.0% and a specificity of 69.1%.@*CONCLUSIONS@#In this study, using 12 ECG leads, a DLM detected hypokalemia in emergency patients with an AUC of 0.77 to 0.80. Artificial intelligence could be used to analyze an ECG to quickly screen for hypokalemia.


Asunto(s)
Humanos , Inteligencia Artificial , Aprendizaje Profundo , Electrocardiografía , Hipopotasemia/diagnóstico , Estudios Retrospectivos
16.
Rev. méd. Minas Gerais ; 31: 31404, 2021.
Artículo en Portugués | LILACS | ID: biblio-1291370

RESUMEN

Os antirretrovirais (ARV) modificaram a evolução natural da síndrome da imunodeficiência adquirida de um quadro inicialmente com perspectiva fatal para doença de convivência crônica, com sobrevida que pode ser próxima daquela esperada para a pessoa hígida. A administração dos ARV, entretanto, requer vigilância médica, não só do especialista, mas de todos os envolvidos na Atenção Básica, na Unidade de Pronto Atendimento e na Terapia Intensiva, para que seus efeitos adversos sejam reconhecidos e abordados convenientemente, o que significará melhores condições de vida para os portadores do vírus da imunodeficiência humana (VIH). Este relato mostra os riscos de associação de ARV, e alerta para situações limites em que alterações metabólicas graves, como acidemia e hipopotassemia, podem colocar em risco a vida do paciente sob terapia ARV


Antirretrovirals (ARV) are medications that have modified the natural evolution of acquired immunodeficiency syndrome from a disease initially with fatal perspective to a chronic coexisting desease, with survival that may be close to that expected for the healthy person. Its administration, however, requires medical supervision, not only of the specialist, but of all those involved in basic care, in the emergency care unit and in the intensive care unit, so that its adverse effects are recognizeed and approached conveniently, which will mean better living conditions for human immunodeficiency vírus (HIV) carriers. This report shows the risk of ARV association, and alerts to limiting situations in whick serious metabolic changes, such as acidemia and hypokalemia, may endanger the lives of patients on ARV therapy.


Asunto(s)
Femenino , Persona de Mediana Edad , Acidosis Láctica , Antirretrovirales , Hipopotasemia , VIH , Ritonavir , Lamivudine , Vigilancia en Desastres , Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos , Lopinavir , Tenofovir , Sulfato de Atazanavir
17.
Rev. méd. Minas Gerais ; 31: 31411, 2021.
Artículo en Portugués | LILACS | ID: biblio-1291393

RESUMEN

A paralisia periódica hipocalêmica tireotóxica é uma complicação rara do hipertireoidismo. Caracteriza-se por episódios de fraqueza muscular recorrente, associado à tireotoxicose e hipocalemia. Ocorre frequentemente em pacientes do sexo masculino e de origem asiática. Nesse contexto, o objetivo deste estudo é descrever o relato de caso de um paciente acometido por paralisia periódica hipocalêmica tireotóxica com redução acentuada da qualidade de vida e internações recorrentes devido a quadro agudo de tetraparesia flácida ascendente associado a hipocalemia grave por não adesão ao tratamento do hipertireoidismo. A paralisia periódica hipocalêmica tireotóxica apresenta evolução favorável quando reconhecida e tratada com controle inicial dos sintomas para normalização sérica do potássio e posterior resolução do quadro tireotóxico.


Thyrotoxic hypokalemic periodic paralysis is a rare complication of hyperthyroidism. The issue has been characterized by episodes of recurrent muscle weakness associated with thyrotoxicosis and hypokalemia. It occurs most often in male patients of Asian origin. This study aims on describing the case report of a patient affected by thyrotoxic hypokalemic periodic paralysis with intense reduction in life quality and recurrent hospitalizations due to ascending acute flaccid tetraparesis associated with severe hypokalemia due to non-adherence to treatment of hyperthyroidism. Thyrotoxic hypokalemic periodic paralysis presents a favorable evolution when identified and treated with initial symptom control for serum potassium normalization and subsequent resolution of the thyroid toxicity.


Asunto(s)
Humanos , Masculino , Adulto , Tirotoxicosis , Parálisis Periódica Hipopotasémica , Potasio , Glándula Tiroides , Debilidad Muscular , Pueblo Asiatico , Hipertiroidismo , Hipopotasemia
18.
In. Manzanares Castro, William; Aramendi Epstein, Ignacio; Pico, José Luis do. Disionías en el paciente grave: historias clínicas comentadas. Montevideo, Cuadrado, 2021. p.167-183.
Monografía en Español | LILACS, UY-BNMED, BNUY | ID: biblio-1344736
19.
J. bras. nefrol ; 42(3): 380-383, July-Sept. 2020. graf
Artículo en Inglés, Portugués | LILACS | ID: biblio-1134846

RESUMEN

ABSTRACT We report an unusual case of a 24-year-old girl with a history of recurrent hypokalemic paralysis episodes and skin lesions on the lower limbs and buttocks, both of which had an acute evolution. In subsequent investigations, the patient also had nephrocalcinosis, nephrolithiasis, hyperchloremic metabolic acidosis and persistent alkaline urinary pH. The findings were consistent with distal renal tubular acidosis as the cause of hypokalemic paralysis. Clinical findings, immunological tests and the result of skin biopsy suggested primary Sjögren's syndrome as an underlying cause. The patient developed azotemia due to obstructive nephrolithiasis. All the features presented in this case are an unusual manifestation of distal renal tubular acidosis; so far, we are not aware of a similar report in the literature.


RESUMO Relatamos um caso incomum de uma jovem de 24 anos com história de episódios recorrentes de paralisia hipocalêmica e lesões cutâneas em membros inferiores e nádegas, ambas de evolução aguda. Em investigações subsequentes, verificou-se que a paciente apresentava nefrocalcinose, nefrolitíase, acidose metabólica hiperclorêmica e pH urinário persistentemente alcalino. Os achados foram consistentes com acidose tubular renal distal como causa da paralisia hipocalêmica. Achados clínicos, exames imunológicos e o resultado da biópsia de pele foram compatíveis com a síndrome de Sjögren primária como causa subjacente. A paciente evoluiu com azotemia em decorrência da nefrolitíase obstrutiva. Todas as características apresentadas nesse caso são uma manifestação incomum de acidose tubular renal distal; até o momento, não temos conhecimento de um relato semelhante na literatura.


Asunto(s)
Humanos , Femenino , Adulto , Adulto Joven , Acidosis Tubular Renal , Síndrome de Sjögren , Hipopotasemia , Nefrocalcinosis , Brasil
20.
J. bras. nefrol ; 42(2): 250-253, Apr.-June 2020.
Artículo en Inglés, Portugués | LILACS | ID: biblio-1134808

RESUMEN

ABSTRACT This study reports a case of a 13-year-old male with a 3-year history of severe and intermittent hypokalemia episodes of unknown origin, requiring admission to the intensive care unit (ICU) for long QT syndrome (LQTS), finally diagnosed of redistributive hypokalemia secondary to the abuse of β-adrenergic agonists in the context of a probable factitious disorder.


RESUMO O presente estudo relata o caso de um jovem de 13 anos de idade com histórico, há três anos, de episódios de hipocalemia grave intermitente de origem desconhecida, internado em unidade de terapia intensiva (UTI) por síndrome do QT longo (SQTL). O paciente foi diagnosticado com hipocalemia por redistribuição secundária ao abuso de agonistas β-adrenérgicos, em contexto de provável transtorno factício.


Asunto(s)
Humanos , Masculino , Adolescente , Síndrome de QT Prolongado/inducido químicamente , Agonistas Adrenérgicos beta/efectos adversos , Trastornos Fingidos/diagnóstico , Hipopotasemia/inducido químicamente , Potasio/sangre , Potasio/uso terapéutico , Recurrencia , Síndrome de QT Prolongado/psicología , Agonistas Adrenérgicos beta/sangre , Albuterol/sangre , Sobredosis de Droga/complicaciones , Hipopotasemia/psicología , Hipopotasemia/sangre
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