Mediation of serum albumin in the association of serum potassium with mortality in Chinese dialysis patients: a prospective cohort study / 中华医学杂志(英文版)

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.

Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome

Gitelman's syndrome (GS) is caused by loss-of-function mutations in SLC12A3 and characterized by hypokalemic metabolic alkalosis, hypocalciuria, and hypomagnesemia. Long-term prognosis and the role of gene diagnosis in GS are still unclear. To investigate genotype-phenotype correlation in GS and Gitelman-like syndrome, we enrolled 34 patients who showed hypokalemic metabolic alkalosis without secondary causes. Mutation analysis of SLC12A3 and CLCNKB was performed. Thirty-one patients had mutations in SLC12A3, 5 patients in CLCNKB, and 2 patients in both genes. There was no significant difference between male and female in clinical manifestations at the time of presentation, except for early onset of symptoms in males and more profound hypokalemia in females. We identified 10 novel mutations in SLC12A3 and 4 in CLCNKB. Compared with those with CLCNKB mutations, patients with SLC12A3 mutations were characterized by more consistent hypocalciuria and hypomagnesemia. Patients with 2 mutant SLC12A3 alleles, compared with those with 1 mutant allele, did not have more severe clinical and laboratory findings except for lower plasma magnesium concentrations. Male and female patients did not differ in their requirement for electrolyte replacements. Two patients with concomitant SLC12A3 and CLCNKB mutations had early-onset severe symptoms and showed different response to treatment. Hypocalciuria and hypomagnesemia are useful markers in differentiation of GS and classical Bartter's syndrome. Gender, genotypes or the number of SLC12A3 mutant alleles cannot predict the severity of disease or response to treatment.

Potassium abnormalities in current clinical practice: frequency, causes, severity and management

We aimed to investigate the prevalence and etiology of potassium abnormalities [hypokalemia and hyperkalemia] and management approaches for hospitalized patients. Over a 4-month period, all hospitalized patients at Hacettepe University Medical Faculty Hospitals who underwent at least one measurement of serum potassium during hospitalization were included. Data on serum levels of electrolytes, demographic characteristics, cause[s] of hospitalization, medications, etiology of potassium abnormality and treatment approaches were obtained from the hospital records. Of the 9,045 hospitalized patients, 1,265 [14.0%] had a serum potassium abnormality; 604 [6.7%] patients had hypokalemia and 661 [7.30%] had hyperkalemia. In the hypokalemic patients, the most important reasons were gastrointestinal losses in 555 [91.8%] patients and renal losses in 252 [41.7%] patients. The most frequent treatment strategies were correcting the underlying cause and replacing the potassium deficit. Of the 604 hypokalemic patients, 319 [52.8%] were normokalemic at hospital discharge. The most common reason for hyperkalemia was treatment with renin-angiotensin-aldosterone system blockers in 228 [34.4%] patients, followed by renal failure in 191 [28.8%]. Two hundred and ninety-eight [45.0%] patients were followed without any specific treatment. Of the 661 hyperkalemic patients, 324 [49.0%] were normokalemic at hospital discharge. This study showed a high prevalence of potassium imbalance among hospitalized patients. Although most of the potassium abnormalities were mild/moderate, approximately half of the patients treated for hypokalemia or hyperkalemia were discharged from the hospital with ongoing dyskalemia

Histoplasmosis del sistema nervioso central en un paciente inmunocompetente / Histoplasmosis of the central nervous system in an immunocompetent patient

La histoplasmosis es una afección polifacética producida por el hongo dimorfo Histoplasma capsulatum , cuyas esporas son inhaladas y llegan al pulmón, órgano primario de infección. La forma meníngea, considerada como una de las manifestaciones más graves de esta micosis, suele presentarse en individuos con alteraciones en la inmunidad celular: pacientes con síndrome de inmunodeficiencia humana adquirida, con lupus eritematoso sistémico o con trasplante de órgano sólido, así como en lactantes, debido a su inmadurez inmunológica. La forma de presentación más usual es de resolución espontánea y se observa en individuos inmunocompetentes que se han expuesto a altas concentraciones de conidias y fragmentos miceliares del hongo. En estas personas, la afección se manifiesta por trastornos pulmonares y por la posterior diseminación a otros órganos y sistemas. Se presenta un caso de histoplasmosis del sistema nervioso central en un niño inmunocompetente.

Histoplasmosis is a multifaceted condition caused by the dimorphic fungi Histoplasma capsulatum whose infective spores are inhaled and reach the lungs, the primary organ of infection. The meningeal form, considered one of the most serious manifestations of this mycosis, is usually seen in individuals with impaired cellular immunity such as patients with acquired immunodeficiency syndrome, systemic lupus erythematous or solid organ transplantation, and infants given their immunological immaturity. The most common presentation is self-limited and occurs in immunocompetent individuals who have been exposed to high concentrations of conidia and mycelia fragments of the fungi. In those people, the condition is manifested by pulmonary disorders and late dissemination to other organs and systems. We report a case of central nervous system histoplasmosis in an immunocompetent child.

Recurrent aborted sudden cardiac death with seizures and rhabdomyolysis due to bulimia-induced hypokalemia: Report of one case / Muerte súbita abortada recurrente con convulsiones y rabdomiolisis causada por hipokalemia: Informe de una paciente con bulimia

Recurrent vomiting due to bulimia associated with abuse of furosemide and laxatives causing severe hypokalemia may result in recurrent aborted sudden cardiac death (SCD) and seizures. We report a 25-year-old female with a history of bulimia associated with abuse of furosemide and laxatives since the age of 15 years, migraine since puberty, renal abscesses at age 20 y, and rhabdomyolysis of unknown cause at age 24 y. She experienced aborted SCD due to severe hypokalemia with symptomatic seizures at 21 and 25 years of age. Bulimia patients additionally taking laxatives or furosemide are at particular risk of SCD and rhabdomyolysis and require periodic determination of electrolytes, potassium substitution, and adequate psychiatric therapy and surveillance.

Los vómitos recurrentes debidos a bulimia, asociados a abuso de furosemida y laxantes que causan hipokalemia severa, pueden llevar a muerte súbita abortada y convulsiones. Informamos una mujer de 25 años con una historia de bulimia asociada a abuso de furosemida y laxantes desde los 15 años, migrañas desde la pubertad, abscesos renales a los 20 años y rabdomiolisis de causa desconocida a los 24 años. La paciente tuvo dos episodios de muerte súbita abortada con convulsiones a los 21 y 25 años, debido a hipokalemia severa. Los pacientes con bulimia y abuso de furosemida y laxantes tienen un riesgo mayor de tener muerte súbita y rabdomiolisis, requieren de controles periódicos de electrolitos y tratamiento psiquiátrico.

case of hypokalaemia and dependent oedema induced by liquorice

Excessive intake of liquorice can cause hypokalaemia and hypertension and generally, the onset and severity of symptoms depend on the dose and duration of liquorice intake, as well as individual susceptibility. We describe a patient with hypokalaemia caused by long term consumption of liquorice. Thecase emphasizes the importance of considering a detailed patients' history, which often lead the treating physician to the correct clinical diagnosis

Hypokalemia during the early phase of refeeding in patients with cancer

OBJECTIVE: Refeeding syndrome occurs in patients with severe malnutrition when refeeding begins after a long period of starvation. This syndrome increases the risk of clinical complications and mortality. Hypophosphatemia is considered the primary characteristic of the syndrome. The aim of our study was to investigate the presence of other electrolyte alterations in patients with cancer during the early stage of refeeding. METHODS: In this observational study, we enrolled 34 patients with cancer of the upper aerodigestive tract receiving upfront radiotherapy who were also enrolled in a nutrition program. A caloric intake assessment, anthropometric measurements and biochemical laboratory tests were performed. RESULTS: Significant weight loss (∼20%) was found in these patients. In the patients receiving artificial nutrition, we found lower levels of potassium and total protein compared with those who were fed orally (p = 0.03 for potassium and 0.02 for protein, respectively). Patients on enteral tube feeding had a higher caloric intake compared with those who were fed orally (25±5 kcal/kg/day vs. 10±2 kcal/kg/day). CONCLUSION: Hypokalemia, like hypophosphatemia, could be a complication associated with refeeding in patients with cancer. Hypokalemia was present in the early stages of high-calorie refeeding. .

Associação entre hipopotassemia, desnutrição e mortalidade em pacientes em diálise peritoneal contínua / Association between hypokalemia, malnutrition and mortality in peritoneal dialysis patients

INTRODUÇÃO: A hipopotassemia pode ser um problema grave e promover a mortalidade de pacientes em diálise peritoneal (DP). Vários fatores podem desencadear a hipopotassemia nesses pacientes, como a desnutrição pré-existente, a baixa ingestão alimentar de proteínas e de potássio, e o uso de certos medicamentos. OBJETIVOS: Verificar a prevalência da hipopotassemia e sua associação com a mortalidade, estado nutricional, indicadores clínicos, testes laboratoriais e eletrocardiograma em pacientes em diálise peritoneal. MÉTODOS: Este foi um estudo observacional. Um questionário foi aplicado para identificar seis sinais e sintomas associados à hipopotassemia (definida como potássio sérico < 3,5 mEq/L). O estado nutricional foi avaliado pela avaliação subjetiva global (SGA) e pelo índice de massa corporal (IMC). Dados demográficos, testes laboratoriais, características da diálise e taxa de sobrevida foram coletados. Também foi realizada a análise de eletrocardiograma. RESULTADOS: Dos 110 pacientes avaliados, a hipopotassemia foi detectada em 13,6% (n = 15). A sobrevida foi menor no grupo hipocalêmico (p = 0,002). A hipopotassemia teve associação significativa somente com a albumina e ureia séricas, e com os resultados da SGA. CONCLUSÃO: Baixos níveis de potássio sérico foram associados com pior sobrevida em pacientes em DP e pareceu estar relacionada à desnutrição.

INTRODUCTION: Hypokalemia is found in peritoneal dialysis (PD) patients. The problem may be severe and promote mortality. Several factors may trigger the hypokalemia in PD patients, such as preexisting malnutrition and the low protein and potassium food intake. OBJECTIVES: To verify the prevalence of hypokalemia and its association with mortality, nutrition status, clinical, laboratory and electrocardiographic variables in PD patients. METHODS: Serum K+ levels were evaluated retrospectively in PD patients. Hypokalemia was defined when the average of serum K+ was < 3.5 mEq/L in six consecutive measurements. Other available biochemical tests were also evaluated. Subjective Global Assessment (SGA) and body mass index (BMI) were used to assess the nutrition status. A questionnaire was applied to identify the most common symptoms and signals associated to hypokalemia. An electrocardiogram was performed. Demographic data, dialysis characteristics and survival rate were collected. RESULTS: Hypokalemia was present in 15 out of 110 patients (13.6%). The survival rate was lower in the hypokalemic group (p = 0.002). Hypokalemia was only associated with serum levels of albumin and urea, and with the SGA results. CONCLUSION: Low levels of serum potassium were associated to lower survival in PD patients and it seems to be related to malnutrition.

Hipocalemia persistente: relato de caso / Persistent hypokalemia: case report

JUSTIFICATIVA E OBJETIVOS: Os distúrbios do metabolismo do potássio são comuns e tanto a reposição como o diagnóstico etiológico da hipocalemia grave e refratária em pacientes internados são um grande desafio na prática clínica. A diminuição do potássio plasmático leva a um grande prejuízo na função de nervos e músculos, podendo resultar em arritmias graves, em que o paciente na maioria das vezes apresenta-se assintomático, ou com queixas inespecíficas, como fraqueza muscular. O objetivo deste estudo foi mostrar a dificuldade no diagnóstico etiológico da hipocalemia e trazer alternativas para simplificá-lo. RELATO DO CASO: Paciente do sexo masculino, 34 anos, técnico em enfermagem, que evoluiu com hipocalemia persistentee grave. No período de dois meses evoluiu com quadro de hipertensão arterial, e, posteriormente, acne, confusão mental e diabetes com baixos valores plasmáticos de potássio apesar da reposição vigorosa, por via oral e venosa, de cloreto de potássio. Após descartar o hiperaldosteronismo, investigou-se hipercortisolismo,apesar de discretos achados fenotípicos de síndrome de Cushing. Com a confirmação do diagnóstico de doença de Cushing, o mesmo foi submetido à adrenalectomia bilateral com rápida correção dos valores pressóricos, glicêmicos e de potássio sérico. CONCLUSÃO: Diante de um caso de hipocalemia grave e refratária à reposição, torna-se indispensável o estabelecimento do diagnóstico etiológico para a correção deste grave distúrbio metabólico.

BACKGROUND AND OBJECTIVES: Metabolic disorders of potassium are common and both the replacement and the etiology of severe and refractory hypokalemia in hospitalized patients are a major challenge in clinical practice. The decrease in plasma potassium leads to a large impairment of nerves and muscles function and can result in life-threatening arrhythmias, in which the patient is most often asymptomatic or presents with nonspecific complaints, such as muscle weakness. This study aims to show the difficulty in diagnosing the etiology of hypokalemia and bring alternatives to simplify it. CASE REPORT: Male patient, 34 years-old, technical nursing has developed severe and persistent hypokalemia. In a two-month period he progressed with hypertension, and later, acne, diabetes, mental confusion and low plasma levels of potassium despite vigorous oral and intravenous potassium chloride replacement. After discarding hyperaldosteronism, hypercortisolism was investigated, although discrete phenotypic findings of Cushing's syndrome were present. Just after confirmation of Cushing's disease, the patient has undergone bilateral adrenalectomy with rapid correction of blood pressure values serum glucose and potassium. CONCLUSION: Facing a case of severe hypokalemia refractory to potassium replacement, it is essential to establish an etiological diagnosis for the correction of this serious metabolic disorder.

Persistent hypokalaemia in a jamaican hypertensive patient / Hipocalemia persistente en un paciente hipertenso jamaicano

We report the case of a 48-year old man with uncontrolled hypertension and persistent hypokalaemia from an aldosterone producing adrenal adenoma treated by laparoscopic adrenalectomy. Clinicians' identification of primary hyperaldosteronism is critical as the correct treatment results in improved blood pressure control and reduced risk of complications.

Reportamos el caso de un hombre de 48 años de edad con hipertensión descontrolada e hipocalemia persistente a partir de un adenoma suprarrenal productor de aldosterona, tratado mediante adena-lectomía laparoscópica. La identificación de hiperaldosteronismo primario por parte de los clínicos es fundamental, ya que el tratamiento correcto trae como resultado un mejor control de la presión sanguínea a la par que reduce el riesgo de complicaciones.

Síndrome de Pearson: Reporte de un caso / Pearson syndrome: Case report

Entre las etiologías de anemias en la infancia, las citopatías mitocondriales son poco frecuentes. El síndrome de Pearson se diagnostica principalmente durante etapas iniciales de la vida y es caracterizado por anemia sideroblástica refractaria con vacuolización de células progenitoras en la médula ósea, disfunción del páncreas exocrino y variables alteraciones neurológicas, hepáticas, renales y endocrinas. En el siguiente informe reportamos un nuevo caso de lactante mayor femenino de 14 meses de edad, evaluada de forma multicéntrica con diagnostico clínico y molecular de síndrome de Pearson, con la deleción común de 4.977 pares de bases del ADN mitocondrial. Esta entidad ha sido asociada a diversos fenotipos dentro del amplio espectro clínico de las enfermedades mitocondriales.

Among the etiologies of anemia in the infancy, the mitochondrial cytopathies are infrequent. Pearson syndrome is diagnosed principally during the initial stages of life and it is characterized by refractory sideroblastic anemia with vacuolization of marrow progenitor cells, exocrine pancreatic dysfunction and variable neurologic, hepatic, renal and endocrine failures. We report the case of a 14 month-old girl evaluated by a multicentric study, with clinic and molecular diagnosis of Pearson syndrome, with the 4,977-base pair common deletion of mitochondrial DNA. This entity has been associated to diverse phenotypes within the broad clinical spectrum of mitochondrial disease.

An unusual cause of failure to thrive in a child.

Classic Bartter syndrome, depending on the severity, presents during childhood or adolescence as failure to thrive and may be incorrectly labelled as protein–energy malnutrition, particularly in children from a low socioeconomic stratum. We encountered a 5-year-old boy who was asymptomatic till the age of 3 years. Despite adequate dietary intake, he was admitted and managed in various hospitals as a case of protein–energy malnutrition. On evaluation, he had unusual features in the form of persistent hypokalaemia and polyuria leading us to suspect a renal tubular disorder. Treatment of the condition resulted in good weight gain and normalization of serum electrolytes.

rare electrocardiographic manifestation of a rare form of multiple electrolyte disturbances: hyperparathyroid crisis

The surface electrocardiogram [ECG] has been used as a useful method for detection of metabolic disturbances for a long time. However, it may be difficult to distinguish the exact disturbance when more than one metabolic abnormality exists in a patient simultaneously. Although, [classic] ECG characterizations of common electrolyte disturbances are well described, multiple concurrent electrolyte disturbances may lead to ECG abnormalities that may not be easily detectable. This ECG concerns a 60-year-old male presented with general fatigue, weakness, epigastric pain, anorexia, nausea and extreme hypercalcemia [serum total and ionized calcium levels 20.5 mg/dL and 12.02 mg/dl, respectively], hypokalemia and hypomagnesemia associated with elevated parathyroid hormone [1160 pg/ml] and normal serum vitamin D level [97 ng/ml]. This rare manifestation of primary hyperparathyroidism has been named hyperparathyroid crisis in the literature. Hyperparathyroid crisis is an emergency form of multiple electrolyte abnormalities that manifest as a life-threatening hypercalcemia and simultaneous hypokalemia and hypomagnesemia; these two later are believed to be caused by diuretic effect of calcium on the renal tubules. The unique pattern of ECG in our patient first was misdiagnosed as prominent T waves with prolongation of the QT corrected [QTc] interval, which has been reported several times in patients with hyperparathyroidism crisis, compatible with our patient. But more investigation revealed that, the QTc interval not only is not prolonged, it is shortened as it is expected from the effect of hypercalcemia on electrocardiogram. The exact pattern of the patient's ECG [Figure 1] can be interpreted as it follows: [1] Flattening of the T wave, [2] a prominent U wave, [3] prolongation of the descending limb of the T wave such that it overlapped with the next U wave [4] virtual absence of ST segment and [5] shortening of the QT corrected interval. In conclusion, it should be emphasized when the T and U waves are separated by a very short segment they can mimic the appearance of a prolonged QT interval. However, more investigation can demonstrate the exact electrocardiographic pattern especially in multiple electrolyte disturbances, when [classic] ECG patterns are not expectable

Unusual presentation of the Conn's syndrome: a case report

A 26 -year- old woman presented with rhabdomyolysis secondary to severe hypokalemia. Hypertension and metabolic alkalosis could lead to the suspicion of primary aldosteronism, which was confirmed by a decreased plasma rennin, elevated plasma aldosterone levels and high aldosterone/rennin ratio additionally. Additionally adrenal computed tomography showed an adrenal tumour. Blood pressure and hypokalemia returned to the normal level after adrenaiectomy was performed. This case report highlights the need to be alert to the possibility of primary aldosteronism incidence in a patient presenting with rhabdomyolysis and hypertension caused by severe hypokalemia

Delayed recovery due to exaggerated acid, base and electrolyte imbalance in prolonged laparoscopic repair of diaphragmatic hernia

The acid, base and electrolyte changes are usually observed in the perioperative settings. We report a case of prolonged laparoscopic repair of left-sided diaphragmatic hernia which involved a lot of tissue handling and fluid replacement leading to acid, base and electrolyte imbalance. A 42-year-old male underwent prolonged laparoscopic repair under general anesthesia. Intraoperatively, surgeon reported that contents of hernia includes bowel along with mesentery, spleen and lot of fatty tissue The blood loss was about 2 L which was replaced with 1 L of colloid and 7.5 L of lactated ringer. Near the end of surgery arterial blood gas analysis revealed metabolic acidosis, hyperkalemia, and hypocalcemia leading to delayed recovery. We conclude prolonged laparoscopic surgery involving lot of tissue handling including gut and fat should be monitored for acid, base, electrolyte imbalance and corrected timely to have uneventful rapid recovery

Mutación G47R en el gen SBSN causa síndrome de Bartter con sordera en dos hermanas venezolanas / Bartter syndrome with deafness in two venezuelan sisters

El Síndrome de Bartter (SB) es un grupo heterogéneo de tubulopatías autosómicas recesivas, perdedoras de sal e hipokalémicas. Se han identificado cinco tipos de SB causados por diferentes defectos genéticos, uno de ellos está asociado con sordera neurosensorial (SBSN). Recientemente se han descrito mutaciones en el gen SBND, mapeado en el cromosoma 1p31, asociadas con BSNS. El gen Barttin, codifica para una subunidad B esencial, subunidad de los canales ClC-ka y ClC-kb. Ambas subunidades están co- expresadas en la membrana basolateral de los túbulos renales, en las ramas delgada y gruesa del asa de Henle, y en la vascularización del oído interno. En el presente trabajo se describen los casos clínicos de dos hermanas venezolanas hijas de padres consanguíneos (primo-hermanos) de Jadacaquiva en la Península de Paraguaná, estado Falcón. La secuencia de análisis del gen SBSN mostró que las niñas afectadas eran homocigotas para una transición C-T en axón 1. Esta alteración resulta en una mutación ausente, G47R, la cual suprime el efecto estimulante sobre el barttin de la subunidad del canal ClC-KB. Estas niñas con la mutación G47R presentaron polihidramnios, partoprematuro y pérdida de sal. Sin embargo, la tasa de filtración glomerular de las pacientes es normal. Las manifestaciones clínicas son más moderadas en pacientes con mutación G47R, en relación a otros pacientes publicados con SBSN. Éste es el primer reporte de casos con SBSN en Venezuela.

Bartter syndrome (BS) is a heterogeneous group of autosomal recessive hypokalemic salt-losing tubulopathies. Five types of BS caused by different genetic defects have been identified, and one of them is associated with sensorineural deafness (BSND). Mutations in the recently described BSND gene, mapped in chromosome 1p31, have been reported to be associated with BSNS. This gene encodes barttin, an essential B-subunit ClC-ka and ClC-kb channels. Both subunits are co-expressed in basolateral membranes of renal tubules in the thin and thick ascending limb of Henle’s loop and in the stria vascularis of the inner ear. We studied two venezuelan sisters, daughters of consanguineous parents from a small town called Jadacaquiva, in the peninsula of Paraguaná, Venezuela. Sequence analysis of the BSND gene showed that the affected members were homozygous for C to T transition in axon 1. This alteration results in a missense mutation, G47R that has been previously shown to abolish the stimulatory effect on the subunit barttin of the ClC-Kb channel. The patients with the G47R mutation presented polyhidramnios, premature birth and salt loss. Nevertheless, glomerular filtration rate is normal. Clinical manifestations are moderate in patients with G47R mutation with regard to other patients reported with BSND. This is the first report of BSND in Venezuela.

A young woman with hypogonadism, hypertension and hypokalaemia

We report a case of a 16 years old girl who presented sequentially with primary amenorrhoea, hypertension and hypokalaemia. Eight years later, she was finally diagnosed with 17alpha-hydroxylase deficiency congenital adrenal hyperplasia. Previous antihypertensive medications were stopped. Hydrocortisone alone successfully maintained normotension and normokalaemia.