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.
Artificial Intelligence ; Deep Learning ; Electrocardiography ; Humans ; Hypokalemia/diagnosis* ; Retrospective Studies

The most common type of refractory hypertension found in children is secondary hypertension, which is a potentially curable disease. Reninoma, a renin-secreting juxtaglomerular cell tumor, is a rare cause of severe hypertension that is usually diagnosed in adolescents and young adults. Surgical resection of the tumor completely cures the hypertension of patients with reninoma. The typical clinical presentation of reninoma includes hypokalemia, metabolic alkalosis, and features secondary to the increased activation of the renin-angiotensin system without renal artery stenosis. We report a case of reninoma in a female adolescent with a typical clinical presentation, in which surgical removal of the tumor completely cured hypertension. We discuss here the clinical features, imaging studies, and immunohistochemical examination of the tumor used to establish the diagnosis of reninoma and for the management of the condition.
Adolescent ; Alkalosis ; Child ; Diagnosis ; Humans ; Hypertension ; Hypertension, Renal ; Hypokalemia ; Juxtaglomerular Apparatus ; Renal Artery Obstruction ; Renin ; Renin-Angiotensin System ; Young Adult

Cystic fibrosis (CF) is a fatal autosomal-recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. CF is characterized by recurrent pulmonary infection with obstructive pulmonary disease. CF is common in the Caucasian population but is rare in the Chinese population. The symptoms of early-stage CF are often untypical and may sometimes manifest as Bartter syndrome (BS)-like hypokalemic alkalosis. Therefore, the ability of doctors to differentiate CF from BS-like hypokalemic alkalosis in Chinese infants is a great challenge in the timely and accurate diagnosis of CF. In China, sporadic CF has not been diagnosed in children younger than three years of age to date. Three infants, who were initially admitted to our hospital over the period of June 2013 to September 2014 with BS-like hypokalemic alkalosis, were diagnosed with CF through exome sequencing and sweat chloride measurement. The compound heterozygous mutations of the CFTR gene were detected in two infants, and a homozygous missense mutation was found in one infant. Among the six identified mutations, two are novel point mutations (c.1526G > C and c.3062C > T) that are possibly pathogenic. The three infants are the youngest Chinese patients to have been diagnosed with sporadic CF at a very early stage. Follow-up examination showed that all of the cases remained symptom-free after early intervention, indicating the potential benefit of very early diagnosis and timely intervention in children with CF. Our results demonstrate the necessity of distinguishing CF from BS in Chinese infants with hypokalemic alkalosis and the significant diagnostic value of powerful exome sequencing for rare genetic diseases. Furthermore, our findings expand the CFTR mutation spectrum associated with CF.
Alkalosis ; complications ; Bartter Syndrome ; China ; Cystic Fibrosis ; diagnosis ; genetics ; Cystic Fibrosis Transmembrane Conductance Regulator ; genetics ; Diagnosis, Differential ; Exome ; Female ; Humans ; Hypokalemia ; complications ; Infant ; Male ; Mutation

Primary Sjögren's syndrome (pSS) is characterized by lymphocytic infiltration of the exocrine glands resulting in decreased saliva and tear production. It uncommonly involves the kidneys in various forms, including tubulointerstitial nephritis, renal tubular acidosis, Fanconi syndrome, and rarely glomerulonephritis. Its clinical symptoms include muscle weakness, periodic paralysis, and bone pain due to metabolic acidosis and electrolyte imbalance. Herein, we describe the cases of two women with pSS whose presenting symptoms involve the kidneys. They had hypokalemia and normal anion gap metabolic acidosis due to distal renal tubular acidosis and positive anti-SS-A and anti-SS-B autoantibodies. Since one of them experienced femoral fracture due to osteomalacia secondary to renal tubular acidosis, an earlier diagnosis of pSS is important in preventing serious complications.
Acid-Base Equilibrium ; Acidosis ; Acidosis, Renal Tubular* ; Autoantibodies ; Diagnosis ; Exocrine Glands ; Fanconi Syndrome ; Female ; Femoral Fractures ; Glomerulonephritis ; Humans ; Hypokalemia ; Kidney ; Muscle Weakness ; Nephritis, Interstitial ; Osteomalacia ; Paralysis ; Saliva ; Tears

Gitelman syndrome is characterized by hypokalemia, metabolic alkalosis, hypocalciuria, and hypomagnesemia. The clinical course of Gitelman syndrome in pregnant women remains unclear, but it is thought to be benign. We report here the first Korean case of atypical eclampsia in a 31-year-old who was diagnosed with Gitelman syndrome incidentally during an antenatal screening test. The patient did well during pregnancy despite significant hypokalemia. At 33 weeks’ gestation, the patient exhibited eclampsia, hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome, and renal insufficiency without significant hypertension or proteinuria. We explain this unusual clinical course through a review of the relevant literature.
Adult ; Alkalosis ; Eclampsia ; Female ; Gitelman Syndrome* ; HELLP Syndrome* ; Hemolysis ; Humans ; Hypertension ; Hypokalemia ; Liver ; Pregnancy ; Pregnant Women ; Prenatal Diagnosis ; Proteinuria ; Renal Insufficiency

Gitelman's syndrome (GS), a hereditary disease characterized by hypokalemia, hypomagnesemia, and hypocalciuria, is a salt-losing renal tubulopathy. Herein, we describe a case of a 28-year-old woman diagnosed with atypical GS accompanying chondrocalcinosis. One year ago, she presented with vomiting, hypokalemic metabolic alkalosis, and hypocalciuria, and was tested by diuretic challenge test. As a result, she was diagnosed with atypical GS with normomagnesemia and treated with spironolactone and potassium supplementation. Meanwhile, acute arthritis of the right 1st metatarsophalangeal joint occurred. On the radiographies of the knees, chondrocalcinosis was observed. To the best of our knowledge, this is the first report in Korea of GS with chondrocalcinosis. Antialdosterone therapy or magnesium supplementation is effective in preventing the progression of chondrocalcinosis; thus, early diagnosis and treatment of GS are important.
Adult ; Alkalosis ; Arthritis ; Chondrocalcinosis* ; Early Diagnosis ; Female ; Genetic Diseases, Inborn ; Gitelman Syndrome* ; Humans ; Hypokalemia ; Knee ; Korea ; Magnesium ; Metatarsophalangeal Joint ; Potassium ; Spironolactone ; Vomiting

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disease. Hypertension is common and occurs before decline in renal function. However, the coexistence of hypertension and hypokalemia is rare in ADPKD patients. We report on a 32-year-old woman with secondary aldosteronism. Magnetic resonance imaging of the renal arteries revealed multiple cysts of varying sizes in both the kidneys and the liver, compatible with ADPKD. Increased reninangiotensin-aldosterone system activity was secondary to cyst expansion. After initiation of angiotensin II receptor blocker, her blood pressure was controlled without additional requirement of potassium.
Adult ; Angiotensin Receptor Antagonists ; Blood Pressure ; Diagnosis* ; Female ; Humans ; Hyperaldosteronism ; Hypertension* ; Hypokalemia ; Kidney ; Liver ; Magnetic Resonance Imaging ; Polycystic Kidney, Autosomal Dominant* ; Potassium ; Receptors, Angiotensin ; Renal Artery

Bartter syndrome (BS) I-IV is a rare autosomal recessive disorder affecting salt reabsorption in the thick ascending limb of the loop of Henle. This report highlights clinicopathological findings and genetic studies of classic BS in a 22-year-old female patient who presented with persistent mild proteinuria for 2 years. A renal biopsy demonstrated a mild to moderate increase in the mesangial cells and matrix of most glomeruli, along with marked juxtaglomerular cell hyperplasia. These findings suggested BS associated with mild IgA nephropathy. Focal tubular atrophy, interstitial fibrosis, and lymphocytic infiltration were also observed. A genetic study of the patient and her parents revealed a mutation of the CLCNKB genes. The patient was diagnosed with BS, type III. This case represents an atypical presentation of classic BS in an adult patient. Pathologic findings of renal biopsy combined with genetic analysis and clinicolaboratory findings are important in making an accurate diagnosis.
Adult* ; Atrophy ; Bartter Syndrome* ; Biopsy ; Diagnosis ; Extremities ; Female ; Fibrosis ; Glomerulonephritis, IGA ; Humans ; Hyperplasia ; Hypokalemia ; Loop of Henle ; Mesangial Cells ; Parents ; Proteinuria* ; Young Adult

A 31-year-old woman was referred to our hospital with symptoms of hypertension and bilateral adrenocortical masses with no feature of Cushing syndrome. The serum aldosterone/renin ratio was elevated and the saline loading test showed no suppression of the plasma aldosterone level, consistent with a diagnosis of primary hyperaldosteronism. Overnight and low-dose dexamethasone suppression tests showed no suppression of serum cortisol, indicating a secondary diagnosis of subclinical Cushing syndrome. Adrenal vein sampling during the low-dose dexamethasone suppression test demonstrated excess secretion of cortisol from the left adrenal mass. A partial right adrenalectomy was performed, resulting in normalization of blood pressure, hypokalemia, and high aldosterone level, implying that the right adrenal mass was the main cause of the hyperaldosteronism. A total adrenalectomy for the left adrenal mass was later performed, resulting in a normalization of cortisol level. The final diagnosis was bilateral adrenocortical adenomas, which were secreting aldosterone and cortisol independently. This case is the first report of a concurrent cortisol-producing left adrenal adenoma and an aldosterone-producing right adrenal adenoma in Korea, as demonstrated by adrenal vein sampling and sequential removal of adrenal masses.
Adenoma ; Adrenalectomy ; Adrenocortical Adenoma ; Adult ; Aldosterone* ; Blood Pressure ; Cushing Syndrome ; Dexamethasone ; Diagnosis ; Female ; Humans ; Hydrocortisone* ; Hyperaldosteronism ; Hypertension ; Hypokalemia ; Korea ; Plasma ; Veins

Small cell lung cancer (SCLC), which originated from neuroendocrine tissue, can develop into paraneoplastic endocrine syndromes, such as Cushing syndrome, because of an inappropriate secretion of ectopic adrenocorticotropic hormone (ACTH). This paraneoplastic syndrome is known to be a poor prognostic factor in SCLC. The reason for poor survival may be because of a higher risk of infection associated with hypercortisolemia. Therefore, early detection and appropriate treatment for this syndrome is necessary. But the diagnosis is challenging and the source of ACTH production can be difficult to identify. We report a 69-year-old male patient who had severe hypokalemia, metabolic alkalosis, and hypertension as manifestations of an ACTH-secreting small cell carcinoma of the lung. He was treated with ketoconazole and spironolactone to control the ACTH dependent Cushing syndrome. He survived for 15 months after chemotherapy, which is unusual considering the poor outcome of the ectopic ATH syndrome associated with SCLC.
ACTH Syndrome, Ectopic ; Adrenocorticotropic Hormone* ; Aged ; Alkalosis ; Carcinoma, Small Cell ; Cushing Syndrome ; Diagnosis ; Drug Therapy ; Humans ; Hypertension ; Hypokalemia ; Ketoconazole ; Lung ; Male ; Paraneoplastic Endocrine Syndromes ; Paraneoplastic Syndromes ; Small Cell Lung Carcinoma* ; Spironolactone