Neonatal systemic pseudohypoaldosteronism type I / 中国当代儿科杂志

An 18-day-old male infant was admitted to the hospital due to recurrent hyperkalemia for more than 10 days. The neonate had milk refusal and dyspnea. The blood gas analysis revealed recurrent hyperkalemia, hyponatremia and metabolic acidosis. Adrenocortical hormone replacement therapy was ineffective. Additional tests showed a significant increase in aldosterone levels. Family whole exome sequencing revealed that the infant had compound heterozygous in the SCNNIA gene, inherited from both parents. The infant was diagnosed with neonatal systemic pseudohypoaldosteronism type I. The infant's electrolyte levels were stabilized through treatment with sodium polystyrene sulfonate and sodium supplement. The infant was discharged upon clinical recovery. This study provides a focused description of differential diagnosis of salt-losing syndrome in infants and introduces the multidisciplinary management of neonatal systemic pseudohypoaldosteronism type I.

Pratique anesthésique pour adénomectomies hypophysaires par voie endonasale à Abidjan, Côte d'Ivoire / Anesthesia for endonasal pituitary adenomectomies in Abidjan, Ivory Coast

L'objectif de l'étude est d'évaluer la pratique anesthésique au cours des adénomectomies hypophysaires par voie endo nasale à Abidjan. Méthode : Il s'agissait d'une étude rétrospective à visée analytique et descriptive, menée entre le 01 janvier 2010 et le 31 décembre 2020 et portant sur les patients admis au bloc opératoire pour une adénomectomie hypophysaire. Les caractéristiques sociodémographiques, cliniques, anesthésiques, évolutives et pronostiques ont été étudiées. Résultats : Nous avons recensé 102 patients. L'âge moyen était de 44,72±12,14 ans. Le sex ratio était de 1. Le délai de diagnostic était d'un an pour 46% (n = 47) des patients. L'hypertension artérielle était l'antécédent le plus retrouvé. Les principaux motifs de consultation étaient les céphalées et les troubles de l'acuité visuelle. Le syndrome d'hypertension intracrânien a été observé chez 67,6% (n= 69) des patients. Tous les patients ont bénéficié d'une consultation pré anesthésique. Cinquante-huit pourcent (n=59) des patients ont été classés ASA I selon la société américaine d'anesthésie. L'anesthésie générale était le seul schéma anesthésique. La durée de l'anesthésie était de plus de trois heures chez 57% (n=58) des patients et le réveil sur table a concerné 88,2% (n=90) des patients. La mortalité était de 3,9%. La durée de l'anesthésie supérieure à 6 heures (p= 0,0012 ; OR= 55,8 [4,88-637,33]) et la perte sanguine supérieure à 1000 ml (p = 0,0228 ; OR=18,6 2,152- 160,747]) ont constitué des facteurs de mauvais pronostic (p<0,05). Conclusion: La réduction de la létalité au cours de l'anesthésie pour adénomes hypophysaires passe par la lutte contre les facteurs de mauvais pronostics

Regulation of kidney on potassium balance and its clinical significance / 生理学报

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.

Transient Pseudohypoaldosteronism in a 5-Month-old Infant Manifested as a Failure to Thrive / 이화의대지

Pseudohypoaldosteronism (PHA) in infants is manifested by presence of hyperkalemia, hyponatremia, and metabolic acidosis. At initial stages, PAH is generally suspected as congenital adrenal hyperplasia. Transient PHA has been reported in infants with urinary tract infection and urinary tract malformation. We report a case of 5-month-old infant with failure to thrive and finally diagnosed with transient PHA due to urinary tract infection with vesicoureteral reflux.

Transient Pseudohypoaldosteronism in an infant: A case report / Journal of the ASEAN Federation of Endocrine Societies

@#Transient pseudohypoaldosteronism is strongly linked to urinary tract infections complicating structural urinary tract anomalies. A 3-month-old baby girl with hyponatremia, hyperkalemia and metabolic acidosis associated with urinary tract infection and structural urinary tract anomalies was diagnosed with transient pseudohypoaldosteronism following elevated serum aldosterone and normal 17-hydroxyprogesterone level. Electrolytes normalized with corrections and antibiotic therapy. Clinicians should have a high index of suspicion for transient pseudohypoaldosteronism in an infant presenting with hyponatremia, hyperkalemia and urinary tract infection with or without associated urinary tract anomalies.

Pseudohipoaldosteronismo y aparente exceso de mineralocorticoides: cara y ceca en dos pacientes pediátricos / Pseudohypoaldosteronism and apparent mineralocorticoid excess: two faces, two pediatric patients

Los síndromes endocrinológicos con hipofunción o hiperfunción con niveles paradójicos de dosajes hormonales han sido bien caracterizados en los últimos años del siglo XX, a partir del desarrollo de técnicas genéticas y moleculares. Presentamos dos pacientes con pseudohipoaldosteronismo y aparente exceso de mineralocorticoides como síndromes en espejo, con la intención de alertar al médico clínico respecto de su consideración como entidad diagnóstica en niños con alteraciones hidroelectrolíticas. (AU)

Endocrinological syndromes with underactive or overactive hormonal levels with paradoxical dosages have been well characterized over the years of the twentieth century, from the development of genetic and molecular techniques. We present two patients with pseudohypoaldosteronism and apparent mineralocorticoid excess as mirror syndromes, with the aim to alert the clinician regarding their consideration as a diagnostic entity in children with fluid and electrolyte disturbances. (AU)

Incidentes críticos en los docentes de enfermería: descubriendo una nueva identidad / Incidentes críticos em docentes de enfermagem: descobrindo uma nova identidade / Critical incidents in nursing academics: discovering a new identity

RESUMEN Objetivo: estudio cualitativo que siguió los principios de la teoría fundamentada con el fin de analizar la identidad profesional de docentes de enfermería por medio del análisis de incidentes críticos que más las desestabilizaban. Método: entrevistas semi-estructuradas fueron realizadas a siete enfermeras que actúan como docentes e investigadoras en una universidad privada de Barcelona. Resultados: el material empírico resultante fue organizado en dos categorías: caracterización de los incidentes críticos y reacción de las enfermeras frente a ellos. Conclusión: se concluye que la identidad profesional de estas enfermeras en el campo académico está aún en construcción y que la inexperiencia es el mayor obstáculo que enfrentan para gestionar los incidentes críticos en el trabajo docente. .

RESUMO Objetivo: estudo qualitativo que seguiu os princípios da teoria fundamentada em dados com o objetivo de analisar a identidade profissional de docentes de enfermagem por meio da análise de incidentes críticos que mais as desestabilizaram. Método: entrevistas semiestruturadas foram realizadas com sete enfermeiras que atuam como docentes e pesquisadoras em uma universidade privada de Barcelona. Resultados: o material empírico resultante foi organizado em duas categorias: caracterização dos incidentes críticos e reação das enfermeiras frente a eles. Conclusão: concluiu-se que identidade profissional dessas enfermeiras no campo acadêmico está ainda em construção e a que inexperiência é o maior obstáculo que enfrentam para gerenciar incidentes críticos no trabalho docente. .

ABSTRACT Objective: a qualitative study that followed the principles of the grounded theory in order to analyze the professional identity of nursing academics through the analysis of the most disturbing critical incidents. Method: semi-structured interviews were conducted with seven nurses who worked as professors and researchers in a private university in Barcelona. Results: the resulting empirical material was organized into two categories: characterization of critical incidents and responsiveness to the incident. Conclusion: the professional identity of nurses regarding the academic area is still under construction and inexperience is the major obstacle in the management of critical incidents in the teaching career. .

Pseudohypoaldosteronism in a newborn male with functional polymorphisms in the mineralocorticoid receptor genes

Hyponatremia and hyperkalemia in infancy can be attributed to various causes, originating from a variety of renal and genetic disorders. Pseudohypoaldosteronism type 1 (PHA1) is one of these disorders, causing mineralocorticoid resistance that results in urinary salt wasting, failure to thrive, metabolic acidosis, and dehydration. PHA1 is heterogeneous in etiology. Inactivating mutations in the NR3C2 gene (4q31.1), which encodes the mineralocorticoid receptor, causes a less severe autosomal dominant form that is restricted to the kidney, while mutations in the amiloride-sensitive epithelial sodium channel gene (alpha subunit=SCNN1A, 12p13; beta subunit=SCNN1b, 16p12.2-p12.1; gamma subunit=SCNN1G, 16p12) causes a more severe autosomal recessive form, which has systemic effects. Here we report a neonatal case of kidney restricted PHA1 (renal type of PHA1) who first showed laboratory abnormalities before obvious PHA1 manifestations, with two functional polymorphisms in the NR3C2 gene. This is the second genetically confirmed case in Korea and the first to show functional polymorphisms that have previously been reported in the literature.

Management of a 25-day-old Male Presenting with a First Episode of Acute Pyelonephritis, and Persistent Hyperkalemia with Normal Serum Aldosterone

Hyperkalemia is often detected in young infants, particularly in association with acute pyelonephritis or a urinary tract anomaly. Cases of hyperkalemia in this population may also be due to transient pseudohypoaldosteronism, or immaturity of renal tubules in handling potassium excretion. Symptoms of hyperkalemia are non-specific, but are predominantly related to skeletal or cardiac muscle dysfunction, and can be fatal. Therefore, treatment has to be initiated immediately. Administration of fludrocortisone for hyperkalemia is appropriate in cases with hypoaldosteronism, but is challenging in young infants with hyperkalemia due to renal tubular immaturity, without pseudohypoaldosteronism. We report the case of a 25-day-old male presenting with persistent hyperkalemia with normal serum aldosterone, who was admitted with a first episode of pyelonephritis and unilateral high-grade vesicoureteral reflux. The patient was treated successfully with fludrocortisone.

Pseudohypoaldosteronism Type 1

Pseudohypoaldosteronism (PHA), a rare syndrome of systemic or renal mineralocorticoid resistance, is clinically characterized by hyperkalemia, metabolic acidosis, and elevated plasma aldosterone levels with either renal salt wasting or hypertension. PHA is a heterogeneous disorder both clinically and genetically and can be divided into three subgroups; PHA type 1 (PHA1), type 2 (PHA2) and type 3 (PHA3). PHA1 and PHA2 are genetic disorders, and PHA3 is a secondary disease of transient mineralocorticoid resistance mostly associated with urinary tract infections and obstructive uropathies. PHA1 includes two different forms with different severity of the disease and phenotype: a systemic type of disease with autosomal recessive inheritance (caused by mutations of the amiloride-sensitive epithelial sodium channel, ENaC) and a renal form with autosomal dominant inheritance (caused by mutations of the mineralocorticoid receptor, MR). In the kidneys, the distal nephron takes charge of the fine regulation of water absorption and ion handling under the control of aldosterone. Two major intracellular actors necessary for the action of aldosterone are the MR and the ENaC. Impairment of the intracellular aldosterone signal transduction pathway results in resistance to the action of mineralocorticoids, which leads to PHA. Herein, ion handling the distal nephron and the clinico-genetic findings of PHA are reviewed with special emphasis on PHA type 1.

A Case of Autosomal Recessive Pseudohypoaldosteronism Type 1 with a Novel Mutation in the SCNN1A Gene

Pseudohypoaldosteronism (PHA) is a condition characterized by renal salt wasting, hyperkalemia, and metabolic acidosis due to renal tubular resistance to aldosterone. Systemic PHA1 is a more severe condition caused by defective transepithelial sodium transport due to mutations in the genes encoding the alpha (SCNN1A), beta (SCNN1B), or gamma (SCNN1G) subunits of the epithelial sodium channel at the collecting duct, and involves the sweat glands, salivary glands, colon, and lung. Although systemic PHA1 is a rare disease, we believe that genetic studies should be performed in patients with normal renal function but with high plasma renin and aldosterone levels, without a history of potassium-sparing diuretic use or obstructive uropathy. In the present report, we describe a case of autosomal recessive PHA1 that was genetically diagnosed in a newborn after severe hyperkalemia was noted.

A Case of Autosomal Recessive Pseudohypoaldosteronism Type 1 with a Novel Mutation in the SCNN1A Gene

Pseudohypoaldosteronism (PHA) is a condition characterized by renal salt wasting, hyperkalemia, and metabolic acidosis due to renal tubular resistance to aldosterone. Systemic PHA1 is a more severe condition caused by defective transepithelial sodium transport due to mutations in the genes encoding the alpha (SCNN1A), beta (SCNN1B), or gamma (SCNN1G) subunits of the epithelial sodium channel at the collecting duct, and involves the sweat glands, salivary glands, colon, and lung. Although systemic PHA1 is a rare disease, we believe that genetic studies should be performed in patients with normal renal function but with high plasma renin and aldosterone levels, without a history of potassium-sparing diuretic use or obstructive uropathy. In the present report, we describe a case of autosomal recessive PHA1 that was genetically diagnosed in a newborn after severe hyperkalemia was noted.

Transient Pseudohypoaldosteronism in an Infant with Vesicoureteral Reflux

A 6-month-old boy with vesicoureteral reflux exhibited features of transient type 1 pseudohypoaldosteronism (PHA) in the course of urinary tract infection. PHA presents hyponatremia, hyperkalemia, and metabolic acidosis, accompanying with high urinary sodium, low potassium excretion, and high plasma aldosterone concentration. Severe electrolyte disturbance can occur in an infant with vesicoureteral reflux because of secondary PHA. Appropriate treatment of dehydration and sodium supplementation induces rapid improvement of electrolyte imbalance and metabolic acidosis resulting from secondary PHA associated with vesicoureteral reflux.

Presentación de casos clínicos Seudohipoaldosteronismo de tipo 1: una emergencia hidroelectrolítica infrecuente. Comunicación de cuatro casos / Pseudohypoaldosteronism type 1: an uncommon electrolyte emergency. Report of four cases

El seudohipoaldosteronismo de tipo 1 es un síndrome infrecuente de resistencia a la aldosterona que se manifiesta con pérdida salina, hiponatremia, hiperpotasemia, acidosis metabólica hiperclorémica e hiperaldosteronismo hiperreninémico. El síndrome puede ser genético; secundario a uropatías e infección urinaria entre otras causas o presentarse esporádicamente. La pérdida salina puede ser sistémica y grave o localizada a nivel renal, por lo general, con mejor pronóstico. El cuadro clínico se manifiesta predominantemente en los primeros siete meses de vida; un marcado retraso pondoestatural y vómitos recurrentes suelen ser los signos clínicos habituales, rara vez se presenta como una emergencia hidroelectrolítica en forma de shock hipovolémico, arritmias cardíacas hiperpotasémicas y crisis convulsiva por hiponatremia. Se presentan cuatro pacientes que debutaron como una emergencia hidroelectrolítica.

Pseudohypoaldosteronism type 1 is a rare syndrome of resistance to aldosterone manifested by salt wasting, hyponatremia, hyperkalemia, hyperchloremic metabolic acidosis, and hiperreninemic hyperaldosteronism. The syndrome may be genetic, secondary to uropathies and urinary tract infection among other causes or it may occur sporadically. The salt wasting may be systemic and severe or localized to the kidney usually with better prognosis. The clinical picture is prevalent in the first seven months of life, failure to thrive and recurrent vomiting are usually the common clinical signs, an electrolyte emergency in the form of hypovolemic shock, hyperkalemic cardiac arrhythmias and hyponatremic seizures is rare. Four patients presenting with an electrolyte emergency are reported.

A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene / 소아과

Pseudohypoaldosteronism type 1 (PHA1) is a rare form of mineralocorticoid resistance characterized in newborns by salt wasting with dehydration, hyperkalemia and failure to thrive. This disease is heterogeneous in etiology and includes autosomal dominant PHA1 owing to mutations of the NR3C2 gene encoding the mineralocorticoid receptor, autosomal recessive PHA1 due to mutations of the epithelial sodium channel (ENaC) gene, and secondary PHA1 associated with urinary tract diseases. Amongst these diseases, autosomal dominant PHA1 shows has manifestations restricted to renal tubules including a mild salt loss during infancy and that shows a gradual improvement with advancing age. Here, we report a neonatal case of PHA1 with a NR3C2 gene mutation (a heterozygous c.2146_2147insG in exon 5), in which the patient showed failure to thrive, hyponatremia, hyperkalemia, and elevated plasma renin and aldosterone levels. This is the first case of pseudohypoaldosteronism type 1 confirmed by genetic analysis in Korea.

Urosepsis simulating congenital adrenal hyperplasia in an infant

Urinary tract infection in infants simulating congenital adrenal hyperplasia is rarely reported in literature. We report a case, which was misdiagnosed as a case of congenital adrenal hyperplasia. A three-month old female infant was admitted to a local hospital for persistent vomiting and severe dehydration. Her biochemical profile revealed hyponatremia, hyperkalemia and metabolic acidosis. She was initially misdiagnosed as congenital adrenal hyperplasia [CAH]. Her urine examination revealed a urinary tract infection. Upon investigation there was no evidence of an obstructive uropathy. A full septic work up was performed and she was treated for a suspected urosepsis. Her electrolytes imbalance improved to normal and she had a complete recovery after antibiotic therapy. This case demonstrates the importance of urine culture and ultrasound examination in suspected case of pseudo-hypoaldosteronism

Pseudohypoaldosteronism in a premature neonate with severe polyhydramnios in utero / 소아과

We report a case of a premature newborn baby who presented with hyponatremia, hyperkalemia, and metabolic acidosis accompanied by severe polyhydramnios in utero. The baby was diagnosed with pseudohypoaldosteronism on the basis of normal 17-hydroxyprogesterone levels, elevated aldosterone, and clinical symptoms. His serum electrolyte levels were corrected with sodium chloride supplementation. Sodium supplementation was reduced gradually and discontinued at 5 months of age. At 5 months, the child was able to maintain normal serum electrolyte levels without oral sodium chloride supplementation, and showed normal physical and neurological development. This case illustrates that pseudohypoaldosteronism must be considered if a newborn infant with an antenatal history of severe polyhydramnios shows excessive salt loss with normal levels of 17-hydroxyprogesterone.