736 results match your criteria Hyporeninemic Hypoaldosteronism


Liddle Syndrome due to a Novel c.1713 Deletion in the Epithelial Sodium Channel β-Subunit in a Normotensive Adolescent.

AACE Clin Case Rep 2021 Jan-Feb;7(1):65-68. Epub 2020 Dec 28.

College of Medicine, California Northstate University, Elk Grove, California.

Objective: Liddle syndrome (LS) is a rare autosomal dominant condition secondary to a gain-of-function mutation affecting the epithelial sodium channels (ENaCs) in the distal nephron. It presents with early-onset hypertension, hypokalemia, and metabolic alkalosis in the face of hyporeninemia and hypoaldosteronism. We report a novel mutation affecting the ENaCs in a normotensive adolescent with LS. Read More

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December 2020

Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Front Endocrinol (Lausanne) 2021 19;12:626646. Epub 2021 Mar 19.

Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a disorder of adrenal steroid biosynthesis, leading to hypocortisolism, hypoaldosteronism, and hyperandrogenism. Impaired quality of life (QoL) has been demonstrated in women with CAH, but data on men with CAH are scarce. We hypothesized that disease severity and poor treatment control are inversely associated with QoL. Read More

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Cotrimoxazole-induced hyperkalaemia in a patient with known hypoaldosteronism.

BMJ Case Rep 2021 Mar 4;14(3). Epub 2021 Mar 4.

Department of Diabetes and Endocrinology, Mater Dei Hospital, Msida, Malta.

A70-year-old man, with established hypoadrenalism due to a previous bilateral adrenalectomy, was admitted with recurrent episodes of postural dizziness and presyncope. He had been discharged from hospital 3 weeks earlier on a 1-month course of cotrimoxazole following a diagnosis of prostatitis. His electrolytes on admission showed new onset hyponatraemia and hyperkalaemia. Read More

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tabolic Acidosis, yperkalemia, enal nresponsiveness to Aldosterone Syndrome: Response to Treatment with Low-Potassium Diet.

Saudi J Kidney Dis Transpl 2020 Sep-Oct;31(5):1134-1139

Department of Nephrology and Hypertension, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Glickman Urological and Kidney Institute, Cleveland Clinic, Cleveland, Ohio, USA.

Gordon syndrome involves hyperkalemia, acidosis, and severe hypertension (HTN) with hypercalciuria, low renin and aldosterone levels. It is commonly observed in children and adolescents. Such patients respond successfully to sodium restriction and thiazide diuretics. Read More

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November 2020

Type IV RTA in Chronic Adrenal Insufficiency and Concomitant Lisinopril Treatment.

Case Rep Endocrinol 2020 19;2020:8897112. Epub 2020 Oct 19.

Department of Medicine, University of Pittsburgh Medical Center, 200 Lothrop Street, Suite N715, Pittsburgh, PA 15213, USA.

Type IV renal tubular acidosis (RTA) is the only RTA characterized by hyperkalemia, and it is caused by a true aldosterone deficiency or renal tubular aldosterone hyporesponsiveness. It is frequent among hospitalized patients as it is related to type 2 diabetes mellitus (T2DM) and common medications such as ACE-inhibitors (ACE-is) and trimethoprim-sulfamethoxazole (TMP-SMX). Drug-induced RTA commonly manifests in patients with predisposing conditions such as mild renal insufficiency and certain pharmacological therapies. Read More

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October 2020

Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency.

J Clin Endocrinol Metab 2021 Jan;106(1):e182-e191

Division of Endocrinology, Diabetes and Metabolism, Center for Rare Pediatric Endocrine Diseases, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, "Agia Sophia" Children's Hospital, Athens, Greece.

Context: Isolated congenital hypoaldosteronism presents in early infancy with symptoms including vomiting, severe dehydration, salt wasting, and failure to thrive. The main causes of this rare autosomal recessive disorder is pathogenic variants of the CYP11B2 gene leading to aldosterone synthase deficiency.

Objective: To investigate the presence of CYP11B2 pathogenic variants in a cohort of patients with a clinical, biochemical, and hormonal profile suggestive of aldosterone synthase deficiency. Read More

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January 2021

COVID-19 and late-onset hypertension with hyporeninaemic hypoaldosteronism.

Int J Clin Pract 2021 01;75(1):e13773

Wexham Park Hospital, Frimley Health NHS Foundation Trust, Slough, UK.

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January 2021

Ibuprofen-Induced Distal Renal Tubular Acidosis and Hyporeninemic Hypoaldosteronism: Enough NSAID.

Mayo Clin Proc 2020 10;95(10):2296-2299

Wexham Park Hospital, Frimley Health NHS Foundation Trust, Slough, UK; University of Cyprus Medical School, Nicosia, Cyprus.

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October 2020

Type 4 Hyperkalemic Renal Tubular Acidosis After Coronary Artery Bypass Grafting.

J Cardiothorac Vasc Anesth 2020 Aug 16. Epub 2020 Aug 16.

Division of Cardiothoracic Surgery, Department of Surgery, University of Kentucky College of Medicine, Lexington, KY.

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Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis.

Endocr Regul 2020 Jul;54(3):227-229

Second Department of Paediatrics, Children's Hospital 'P. & A. Kyriakou, National and Kapodistrian University of Athens, Athens, Greece.

Objective: Aldosterone synthase deficiency (ASD) is a rare, autosomal recessive inherited disease with an overall clinical phenotype of failure to thrive, vomiting, severe dehydration, hyperkalemia, and hyponatremia. Mutations in the CYP11B2 gene encoding aldosterone synthase are responsible for the occurrence of ASD. Defects in CYP11B2 gene have only been reported in a limited number of cases worldwide. Read More

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Aldosterone deficiency with a hormone profile mimicking pseudohypoaldosteronism.

J Pediatr Endocrinol Metab 2020 Nov;33(11):1501-1505

Departments of Pediatrics & Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Madrid, Spain.

Background Aldosterone deficiency (hypoaldosteronism) or aldosterone resistance (pseudohypoaldosteronism) both result in defective aldosterone activity. Case presentation A 42-day-old man presented with failure to thrive, hyponatremia, high urine sodium output, severe hyperkalemia and high plasma renin activity and aldosterone levels. NR3C2, SCNN1A, B and G sequencing showed no variants. Read More

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November 2020

The First Reported Case of Hyperreninemic Hypoaldosteronism Due to Mucopolysaccharidosis Disorder.

Cureus 2020 Jun 7;12(6):e8487. Epub 2020 Jun 7.

Pediatrics, Rush University Children's Hospital, Chicago, USA.

Mucopolysaccharidoses (MPS) are rare genetic lysosomal storage disorders caused by a deficiency of enzymes that catalyze the breakdown of glycosaminoglycans. MPS-III, also known as Sanfilippo syndrome, is caused by a deficiency of one of four enzymes that catalyze heparan sulfate proteoglycan degradation. MPS-IIIA results from a deficiency of heparan sulfatase. Read More

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Voriconazole-induced Severe Hyperkalemia Precipitated by Multiple Drug Interactions.

Electrolyte Blood Press 2020 Jun 18;18(1):10-15. Epub 2020 Jun 18.

Department of Internal Medicine, Hanyang University Hospital, Hanyang University College of Medicine, Seoul, Korea.

Voriconazole, a triazole antifungal agent used to treat serious fungal infections, has a pharmacokinetic characteristic of undergoing hepatic metabolism by the cytochrome P450 system. Few cases of hyperkalemia have been reported, which presented only when the serum voriconazole level was exceptionally elevated by drug-drug interactions. Additionally, azole antifungals may interfere with the biosynthesis of adrenal steroids and therefore can predispose patients to aldosterone deficiency. Read More

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Mineralocorticoid Dysfunction during Critical Illness: A Review of the Evidence.

Anesthesiology 2020 08;133(2):439-457

From the School of Clinical Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa (G.D.N., C.F.) the Department of Anaesthesia and Perioperative Medicine, Royal Brisbane and Women's Hospital, Queensland, Australia (G.D.N.) the Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia (G.D.N., J.C., J.L.) The George Institute, Sydney, New South Wales, Australia (J.C.) The Wesley Hospital, Brisbane, Queensland, Australia (J.C.) Intensive Care Services, Royal Brisbane and Women's Hospital, Herston, Brisbane, Queensland, Australia (J.C., J.L.) Nimes University Hospital, University of Montpellier, Nimes, France (J.L.) the Institute for Cellular and Molecular Medicine, Department of Immunology, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa (R.A.).

The recent demonstration of the significant reduction in mortality in patients with septic shock treated with adjunctive glucocorticoids combined with fludrocortisone and the effectiveness of angiotensin II in treating vasodilatory shock have renewed interest in the role of the mineralocorticoid axis in critical illness. Glucocorticoids have variable interactions at the mineralocorticoid receptor. Similarly, mineralocorticoid receptor-aldosterone interactions differ from mineralocorticoid receptor-glucocorticoid interactions and predicate receptor-ligand interactions that differ with respect to cellular effects. Read More

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Therapeutic Renin Inhibition in Diabetic Nephropathy-A Review of the Physiological Evidence.

Front Physiol 2020 12;11:190. Epub 2020 Mar 12.

Center of Innovation, Technology and Education-CITÉ, São José dos Campos Technology Park, São José dos Campos, São Paulo, Brazil.

The purpose of this systematic review was to investigate the scientific evidence to support the use of direct renin inhibitors (DRIs) in diabetic nephropathy (DN). MEDLINE was searched for articles reported until 2018. A standardized dataset was extracted from articles describing the effects of DRIs on plasma renin activity (PRA) in DN. Read More

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Persistent severe hyperkalemia following surgical treatment of aldosterone-producing adenoma.

J Res Med Sci 2020 20;25:17. Epub 2020 Feb 20.

Department of Endocrinology, University of Medicine and Pharmacy "Grigore T. Popa", Iaşi, Romania.

Primary aldosteronism is one of the most common causes of secondary hypertension. This condition is characterized by autonomous hypersecretion of aldosterone which produces sodium retention and potassium excretion, resulting in high blood pressure and potential hypokalemia. Transient postoperative hyporeninemic hypoaldosteronism with an increased risk of hyperkalemia may occur in some patients. Read More

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February 2020

Adrenal Venous Sampling in Primary Aldosteronism: The Usefulness of Contralateral Suppression Index.

Case Rep Med 2019 3;2019:1604367. Epub 2019 Sep 3.

Department of Internal Medicine and Endocrine Unit, Medical School and Clementino Fraga Filho University Hospital-Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.

Adrenal venous sampling (AVS) is the gold standard test to differentiate the unilateral from the bilateral form in patients with primary aldosteronism (PA) although it may be a difficult procedure, especially the successful cannulation of the right adrenal vein. In this report, we describe a 49-year-old female patient diagnosed with PA, after investigating resistant hypertension and refractory hypokalemia. Abdominal computed tomography scan revealed a 2. Read More

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September 2019

Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia.

J Sex Med 2019 10 22;16(10):1529-1540. Epub 2019 Aug 22.

Clinical Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Austria; Clinical Division of Gynecologic Endocrinology and Reproductive Medicine, Department of Obstetrics and Gynecology, Medical University of Vienna, Austria.

Background: Depending on CYP21A2 genotype, congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency leads to biochemical alterations (including hyperandrogenism, hypocortisolism, and hypoaldosteronism) and a wide spectrum of phenotypic disease manifestation. The latter include life-threatening salt-wasting crises, prenatal virilization of genitalia in women (classic CAH [C-CAH]) as well as milder forms of the disease exclusively presenting with hirsutism, acne or reduced fertility (nonclassic CAH [NC-CAH]), and could influence sexual function and identity.

Aim: The present study evaluated sexual function, gender identification, and partner preference in women with C-CAH and NC-CAH. Read More

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October 2019

"Small Heart Syndrome" with Orthostatic Hypotension.

Intern Med 2019 11 22;58(22):3337-3338. Epub 2019 Jul 22.

Department of General Medicine, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Japan.

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November 2019

Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review.

Steroids 2019 10 11;150:108448. Epub 2019 Jul 11.

Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100730, China.

Aldosterone synthase deficiency (ASD) is a rare autosomal recessive disorder characterized by severe hyperkalemia, salt loss, vomiting, severe dehydration and failure to thrive. ASD is a life-threatening electrolyte imbalance in infants resulting from mutations in CYP11B2. We described ASD in a Chinese male infant with vomiting, poor feeding and failure to thrive. Read More

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October 2019

Hyponatremia in children under 100 days old: incidence and etiologies.

Eur J Pediatr 2019 Sep 13;178(9):1353-1361. Epub 2019 Jul 13.

Assistance Publique-Hôpitaux de Paris (AP-HP), Department of Pediatric Endocrinology and Diabetology, and Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Hôpital Universitaire Robert-Debré, F-75019, Paris, France.

Hyponatremia is one of the most common electrolyte disorders in hospitalized children. The underlying mechanisms are poorly understood and potentially multifactorial, making management difficult, particularly in neonates. This retrospective study aimed to determine the incidence and etiologies of hyponatremia in hospitalized children under the age of 100 days, in our pediatric tertiary care hospital over a 1-year period. Read More

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September 2019

Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report.

BMC Med Genet 2019 06 4;20(1):98. Epub 2019 Jun 4.

Laboratoire de Biochimie et Biologie Moléculaire Grand Est, UM Pathologies Endocriniennes Rénales Musculaires et Mucoviscidose, Groupement Hospitalier Est, Hospices Civils de Lyon, Univ Lyon, Université Claude Bernard Lyon 1, Lyon, France.

Background: X-linked Adrenal Hypoplasia Congenita (AHC) is a rare cause of primary adrenal insufficiency due to mutations in the NR0B1 gene, causing a loss of function of the nuclear receptor protein DAX-1. Adrenal insufficiency usually appears in the first 2 months of life, but can sometimes emerge during childhood. Hypogonadotropic Hypogonadism is often associated later in life and patients may develop azoospermia. Read More

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Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in SCNN1Aand SCNN1BGenes.

Horm Res Paediatr 2019 24;91(3):175-185. Epub 2019 Apr 24.

Department of Paediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Objective: The systemic form of pseudohypoaldosteronism type 1 (PHA1) is an autosomal recessive disorder characterized by defective sodium transport in multi-organ systems. Mutations in the genes encoding the amiloride-sensitive epithelial sodium channel, ENaC, account for genetic causes of systemic PHA1. We describe systemic PHA1 due to 4 novel variants detected in SCNN1A and SCNN1B in 3 cases from 3 unrelated consanguineous families. Read More

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December 2019

Congenital hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency type I in a Portuguese patient - Case report and review of literature.

Arch Endocrinol Metab 2019 Feb;63(1):84-88

Pediatric Endocrinology Unit, Coimbra Hospital and University Center, Coimbra, Portugal.

Hyperreninemic hypoaldosteronism due to aldosterone synthase (AS) deficiency is a rare condition typically presenting as salt-wasting syndrome in the neonatal period. A one-month-old Portuguese boy born to non-consanguineous parents was examined for feeding difficulties and poor weight gain. A laboratory workup revealed severe hyponatremia, hyperkaliaemia and high plasma renin with unappropriated normal plasma aldosterone levels, raising the suspicion of AS deficiency. Read More

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February 2019

Adrenal hypoplasia congenita in identical twins.

Saudi Med J 2019 Jan;40(1):87-92

Unit of Pediatric Endocrinology and Diabetes, Maternity and Children Hospital, Dammam, Kingdom of Saudi Arabia. E-mail.

We are presenting a monozygotic twin brothers presented at different ages with different presentations. Twin-A presented at age of 18 days with salt losing crisis. Investigations revealed high plasma renin with low-normal aldosterone. Read More

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January 2019

Exogenous steroid-induced hypoadrenalism in a person living with HIV caused by a drug-drug interaction between cobicistat and intrabursal triamcinolone.

BMJ Case Rep 2018 Dec 14;11(1). Epub 2018 Dec 14.

Department of Orthopaedics and Trauma, Royal Infirmary of Edinburgh, Edinburgh, UK.

We report a diagnosis of exogenous steroid-induced hypoadrenalism in a person living with HIV caused by a drug-drug interaction (DDI) between intrabursal triamcinolone and the pharmacokinetic booster cobicistat. A 53-year-old woman living with HIV, managed with dolutegravir and cobicistat-boosted darunavir, presented to the orthopaedic clinic with worsening hip pain. She was diagnosed with greater trochanteric pain syndrome (GTPS) of the hip and was treated with intrabursal injection of bupivacaine and triamcinolone. Read More

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December 2018

Primary hypoaldosteronism in a dog with pituitary and adrenal T-cell lymphoma.

J Small Anim Pract 2020 Sep 3;61(9):588-592. Epub 2018 Nov 3.

Department of Internal Medicine, Ecole nationale vétérinaire d'Alfort, Paris, F-94700, France.

A 7-year-old mixed breed dog was presented with a 2-week history of vomiting, diarrhoea, weakness and loss of appetite. Initial laboratory tests revealed hyponatraemia and hyperkalaemia consistent with hypoadrenocorticism. Basal plasma cortisol and adrenocorticotropic hormone concentrations were not suggestive of primary hypoadrenocorticism but the aldosterone concentration was undetectable. Read More

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September 2020

[Heparin-induced hyperkalaemia - a case report].

Pol Merkur Lekarski 2018 Oct;45(268):158-160

Warmińsko-Mazurski University of Olsztyn: Department of Nephrology, Hypertensiology and Internal Diseases.

Heparins are drugs commonly used in the prevention and treatment of thromboembolic complications. It is also common to be aware of the complications of their use, such as increased risk of bleeding or induction of throbocytopenia. However, it should not be forgotten that in about 7% of patients the use of heparins may lead to the significant hyperkalaemia. Read More

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October 2018