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    699 results match your criteria Hyporeninemic Hypoaldosteronism

    1 OF 14

    Hyporeninemic hypoaldosteronism in a patient with diabetes mellitus: an unforgettable case report.
    Int Med Case Rep J 2018 3;11:69-72. Epub 2018 Apr 3.
    Department of Diabetes & Endocrinology, Peterborough City Hospital, Peterborough, UK.
    A 58-year-old man presented with a 3-year history of chronic and intermittent hyperkalemia requiring recurrent attendances to the emergency department for urgent treatment. His medical history included secondary diabetes mellitus following a bout of acute pancreatitis and a previous splenectomy for a spontaneous splenic rupture. He also had a history of prolonged use of non-steroidal anti-inflammatory drugs for back pain and painful neuropathy. Read More

    Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance.
    Clin Endocrinol (Oxf) 2018 Mar 27. Epub 2018 Mar 27.
    Faculty of Medicine, Division of Pediatric Endocrinology, Cukurova University, Adana, Turkey.
    Background And Aim: Hypoaldosteronism is associated with either insufficient aldosterone production or aldosterone resistance (pseudohypoaldosteronism). Patients with aldosterone defects typically present with similar symptoms and findings, which include failure to thrive, vomiting, hyponatremia, hyperkalemia and metabolic acidosis. Accurate diagnosis of these clinical conditions therefore can be challenging. Read More

    Diabetes mellitus and hyperkalemic renal tubular acidosis: case reports and literature review.
    J Bras Nefrol 2017 Oct-Dec;39(4):481-485
    Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Lisboa, Portugal.
    Hyporeninemic hypoaldosteronism, despite being common, remains an underdiagnosed entity that is more prevalent in patients with diabetes mellitus. It presents with asymptomatic hyperkalemia along with hyperchloraemic metabolic acidosis without significant renal function impairment. The underlying pathophysiological mechanism is not fully understood, but it is postulated that either aldosterone deficiency (hyporeninemic hypoaldosteronism) and/or target organ aldosterone resistance (pseudohypoaldosteronism) may be responsible. Read More

    Congenital adrenal hyperplasia causing hypertension: an illustrative review.
    J Hum Hypertens 2018 Feb 18;32(2):150-157. Epub 2017 Dec 18.
    University of Calgary, Calgary, AB, Canada.
    Congenital adrenal hyperplasia (CAH) is often considered a pediatric endocrinology condition, but we present two cases of young adults who presented with hypertension. An 18-year-old woman was found to have hypertension and hypokalemia when she presented for gonadectomy for 46, XY gonadal dysgenesis. She was subsequently found to have low cortisol, elevated progesterone, and elevated aldosterone. Read More

    A Novel Mutation of the in a Saudi Infant with Primary Hypoaldosteronism.
    Case Rep Endocrinol 2017 23;2017:8431475. Epub 2017 Oct 23.
    Department of Pediatrics, Prince Sultan Military Medical City, Riyadh 11159, Saudi Arabia.
    Isolated hypoaldosteronism is a rare autosomal recessive disease presenting with severe salt wasting and failure to thrive in infancy. A 6-month-old Saudi girl born to consanguineous parents was referred from primary health care for failure to thrive and developmental delay. Laboratory tests revealed hyponatremia, hyperkalemia, and metabolic acidosis with high renin and low aldosterone. Read More

    Branchio-oto-renal syndrome presenting with syndrome of hyporeninemic hypoaldosteronism.
    Saudi J Kidney Dis Transpl 2017 Sep-Oct;28(5):1165-1168
    Division of Pediatric Nephrology, Lokmanya Tilak Municipal Medical College and General Hospital, Mumbai, Maharashtra, India.
    Branchio-oto-renal (BOR) syndrome is an autosomal dominant, clinically heterogeneous disorder characterized by branchial arch anomalies, hearing impairment, and renal malformations. We report the case of a 10-year-old boy with BOR syndrome who presented with hyperkalemic hyperchloremic metabolic acidosis due to hyporeninemic hypoaldosteronism. The child also had mental retardation and spastic diplegia which have hitherto not been described in BOR syndrome. Read More

    Prenatal Treatment with Dexamethasone in Suspected Congenital Adrenal Hyperplasia and Orofacial Cleft: a Case Report and Review of the Literature.
    Pediatr Endocrinol Rev 2017 Sep;15(1):21-25
    Radboud University Nijmegen Medical Centre, Dept. of Pediatric Endocrinology, 804, P.O 9101, 6500 HB Nijmegen, The Netherlands.
    Congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency is a genetic disorder that leads to hypocortisolism, hyperandrogenism and, in the most severe forms, also to hypoaldosteronism. Girls with classic CAH are born with virilized external genitalia. Prenatal dexamethasone (DXM) treatment can reduce virilization but may have side effects for mother and fetus. Read More

    Alterations of adrenal steroidomic profiles in preterm infants at birth.
    Arch Dis Child Fetal Neonatal Ed 2018 Mar 26;103(2):F143-F151. Epub 2017 Jul 26.
    Inserm, U1185, Le Kremlin-Bicêtre, France.
    Objective: Preterm infants have relative adrenal and kidney immaturity. Recently, we linked their urine sodium loss to a hypoaldosteronism at variance with an appropriate stimulation of the renin-angiotensin system. To investigate this defective aldosterone secretion, we analyse the biosynthesis pathways of adrenal steroids in neonates according to gestational age (GA). Read More

    Considering Postoperative Functional Hypoaldosteronism after Unilateral Adrenalectomy.
    Am Surg 2017 Jun;83(6):598-604
    Conn's Syndrome is an uncommon condition. Patients who have undergone adrenalectomy in the early postoperative period can demonstrate biochemical hypoaldosteronism. Given the rare nature of this phenomenon we investigated its incidence and whether it translated to clinical findings. Read More

    Primary adrenal lymphoma causing hypoaldosteronism in a cat.
    JFMS Open Rep 2016 Jul-Dec;2(2):2055116916684409. Epub 2016 Dec 1.
    Department of Internal Medicine, BluePearl Veterinary Partners, Southfield, MI, USA.
    Case Summary: A 10-year-old, 5.1 kg (11.2 lb), male castrated cat was presented with signs of lethargy and decreased appetite at home after being previously healthy. Read More

    Restoration of Epithelial Sodium Channel Function by Synthetic Peptides in Pseudohypoaldosteronism Type 1B Mutants.
    Front Pharmacol 2017 24;8:85. Epub 2017 Feb 24.
    Department of Pharmacology and Toxicology, University of ViennaVienna, Austria; APEPTICO GmbHVienna, Austria.
    The synthetically produced cyclic peptides solnatide (a.k.a. Read More

    Hyponatremia in an Elderly Patient due to Isolated Hypoaldosteronism Occurring after Licorice Withdrawal.
    Intern Med 2017 15;56(2):175-179. Epub 2017 Jan 15.
    Department of Endocrinology, Kyoto City Hospital, Japan.
    Hyponatremia is one of the most common electrolyte disorders encountered in the elderly. We present the case of an 81-year-old man who developed hyponatremia due to isolated hypoaldosteronism occurring after licorice withdrawal. He had severe hypokalemia with hypertension and was diagnosed with pseudoaldosteronism. Read More

    Review of the Diagnostic Evaluation of Renal Tubular Acidosis.
    Ochsner J 2016 ;16(4):525-530
    Department of Anaesthesia and Intensive Care Medicine, Caboolture Hospital, Caboolture, Queensland, Australia.
    Background: The term renal tubular acidosis (RTA) describes a group of uncommon kidney disorders characterized by defective acid-base regulation. Reaching the diagnosis of RTA is complex and often delayed, resulting in suboptimal treatment.

    Methods: This article provides an overview of the clinical features of RTA and diagnostic approaches in a format accessible to physicians for everyday use. Read More

    J Zoo Wildl Med 2016 Jun;47(2):628-31
    A 20-yr-old female Matschie's tree kangaroo (Dendrolagus matschiei) was diagnosed with hypoaldosteronism, a rare condition in which the body fails to produce normal amounts of the mineralocorticoid aldosterone. Aldosterone plays a key role in body salt homeostasis, increasing sodium reabsorption and promoting excretion of potassium. Hypoaldosteronism resulted in decreased appetite, lethargy, and weight loss in conjunction with hyponatremia, hyperkalemia, and hypercalcemia in this tree kangaroo. Read More

    [Gordon syndrome: The importance of measuring blood pressure in children].
    Arch Pediatr 2016 Aug 28;23(8):827-31. Epub 2016 Jun 28.
    Service de pédiatrie, CHU d'Estaing, 1, place Lucie-et-Raymond-Aubrac, 63100 Clermont-Ferrand, France.
    Gordon's syndrome, or type II pseudo-hypoaldosteronism, is a rare cause of arterial hypertension in children. However, it is important to diagnose this syndrome because of the spectacular efficacy of thiazide diuretics. The typical clinical picture of Gordon syndrome includes, apart from arterial hypertension and dyskaliemia, hyperchloremia metabolic acidosis, hypercalciuria, a low rate of renin, and most frequently, a normal or high rate of aldosterone. Read More

    SFE/SFHTA/AFCE consensus on primary aldosteronism, part 6: Adrenal surgery.
    Ann Endocrinol (Paris) 2016 Jul 11;77(3):220-5. Epub 2016 Jun 11.
    Sorbonne Paris Cité, université Paris Descartes, faculté de médecine, 75006 Paris, France; Service de chirurgie digestive, générale et cancérologique, AP-HP, HEGP, 75015 Paris, France.
    Treatment of primary aldosteronism (PA) aims at preventing or correcting hypertension, hypokalemia and target organ damage. Patients with lateralized PA and candidates for surgery may be managed by laparoscopic adrenalectomy. Partial adrenalectomy and non-surgical ablation have no proven advantage over total adrenalectomy. Read More

    Use of renin angiotensin system inhibitors in patients with chronic kidney disease.
    Intern Med J 2016 May;46(5):626-30
    Department of Rural Health, Melbourne Medical School, University of Melbourne, Melbourne, Victoria, Australia.
    Current guidelines recommend renin angiotensin system inhibitors (RASI) as key components of treatment of hypertension in patients with chronic kidney disease (CKD), because of their effect on reducing the future rate of loss of glomerular filtration rate (GFR). A common risk of RASI in CKD is a haemodynamically mediated, and reversible, fall in GFR of varying severity and duration, any time after commencement of the Inhibitors. A benefit of the acute reduction in filtration rate with RASI may be a reduction in the future rate of loss in GFR: the greatest benefit likely to be in those patients with a greater rate of loss of GFR prior to, and a lesser acute loss of GFR after, introduction of RASI; and in those patients with significant proteinuria. Read More

    Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant.
    J Clin Res Pediatr Endocrinol 2016 Sep 29;8(3):356-9. Epub 2016 Apr 29.
    Necmettin Erbakan University Faculty of Medicine, Department of Pediatric Endocrinology and Diabetes, Konya, Turkey, Phone: +90 332 223 63 50 E-mail:
    Isolated aldosterone synthase deficiency may result in life-threatening salt-wasting and failure to thrive. The condition involves hyperkalemia accompanying hyponatremia. Two types of aldosterone synthase deficiency may be observed depending on hormone levels: corticosterone methyl oxidase type 1 (CMO 1) and CMO 2. Read More

    Renal tubular acidosis type 4 in pregnancy.
    BMJ Case Rep 2016 Mar 17;2016. Epub 2016 Mar 17.
    Women's Directorate Office, Guy's and St Thomas' NHS Foundation Trust, London, UK.
    We describe the clinical course of renal tubular acidosis (RTA) type 4 in pregnancy, which has not been previously published. Renal tubular acidosis type 4 is a condition associated with increased urinary ammonia secondary to hypoaldosteronism or pseudohypoaldosteronism. Pregnancy may worsen the hyperkalaemia and acidosis of renal tubular acidosis type 4, possibly through an antialdosterone effect. Read More

    Hyporeninemic hypoaldosteronism and diabetes mellitus: Pathophysiology assumptions, clinical aspects and implications for management.
    World J Diabetes 2016 Mar;7(5):101-11
    André Gustavo P Sousa, Adriana Bezerra Nunes, Department of Clinical Medicine, Federal University of Rio Grande do Norte, Natal, RN 59012-300, Brazil.
    Patients with diabetes mellitus (DM) frequently develop electrolyte disorders, including hyperkalemia. The most important causal factor of chronic hyperkalemia in patients with diabetes is the syndrome of hyporeninemic hypoaldosteronism (HH), but other conditions may also contribute. Moreover, as hyperkalemia is related to the blockage of the renin-angiotensin-aldosterone system (RAAS) and HH is most common among patients with mild to moderate renal insufficiency due to diabetic nephropathy (DN), the proper evaluation and management of these patients is quite complex. Read More

    Apparent mineralocorticoid excess and the long term treatment of genetic hypertension.
    J Steroid Biochem Mol Biol 2017 01 15;165(Pt A):145-150. Epub 2016 Feb 15.
    Adrenal Steroid Disorder Group, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
    Apparent mineralocorticoid excess (AME) is a genetic disorder causing severe hypertension, hypokalemia, and hyporeninemic hypoaldosteronism owing to deficient 11 beta-hydroxysteroid dehydrogenase type-2 (11βHSD2) enzyme activity. The 11βHSD2 enzyme confers mineralocorticoid receptor specificity for aldosterone by converting cortisol to its inactive metabolite, cortisone and inactivating the cortisol-mineralocorticoid receptor complex. The 20year follow-up of a consanguineous Iranian family with three sibs affected with AME shows the successes and pitfalls of medical therapy with spironolactone. Read More

    Sugar or salt? The relative roles of the glucocorticoid and mineralocorticoid axes in traumatic shock.
    J Trauma Acute Care Surg 2015 Dec;79(6):1023-9
    From the Departments of Surgery (D.W.N., G.E.B., M.J.E., M.J.M.), and Pathology (R.L.T., Z.S.H.), Madigan Army Medical Center, Fort Lewis, Tacoma, Washington.
    Background: Glucocorticoid deficiency (GD) has been proposed as a key contributor to shock states, but the presence and role of acute mineralocorticoid deficiency may be of equal or greater significance. We sought to analyze the incidence and degree of acute mineralocorticoid deficiency and GD in an animal model of severe hemorrhage and shock.

    Methods: Fifty-seven swine underwent 35% volume-controlled hemorrhage followed by aortic cross-clamping for 50 minutes to induce truncal ischemia-reperfusion. Read More

    Liddle's Syndrome: A Case Report.
    J Med Assoc Thai 2015 Oct;98(10):1035-40
    A thirty-eight years old female presented with frequent proximal weakness, severe hypertension, and persistent kaliuresis despite hypokalemia. After normalized serum potassium level, hyporeninemic hypoaldosteronism was detected Pedigree study supported an autosomal dominant inherited disease. A causative mutation for Liddle's syndrome (LS) in this patient was identified to be a novel frameshift mutation. Read More

    Successful treatment of a cat with primary hypoadrenocorticism and severe hyponatremia with desoxycorticosterone pivalate (DOCP).
    Can Vet J 2015 Nov;56(11):1158-60
    Department of Small Animal Medicine and Surgery, College of Veterinary Medicine, University of Georgia, Athens, Georgia, USA.
    A 6-year-old, castrated male Siamese cat was diagnosed with primary hypoadrenocorticism, confirmed by an adrenocorticotopic hormone (ACTH) stimulation test documenting both hypocortisolism and hypoaldosteronism. The cat was successfully treated using a combination of prednisolone and desoxycorticosterone pivalate (DOCP). This case demonstrates that DOCP can be used successfully as mineralocorticoid supplementation in cats with hypoadrenocorticism and may have a longer therapeutic duration than that in dogs. Read More

    Presence of 21-Hydroxylase Antibodies in a Boy with X-Linked Adrenal Hypoplasia Congenita.
    Horm Res Paediatr 2015 9;84(6):408-13. Epub 2015 Oct 9.
    Division of Pediatric Endocrinology, Department of Pediatrics, Kings County Hospital Center, Brooklyn, N.Y., USA.
    Background: X-linked adrenal hypoplasia congenita is a rare cause of primary adrenal insufficiency (PAI) in children due to mutations in NR0B1/DAX1 (nuclear receptor subfamily 0, group B, member 1/dosage-sensitive sex reversal-adrenal hypoplasia congenita at the critical region of the X chromosome, gene 1). Another rare cause of PAI in children is autoimmune adrenal disease (AAD) which could be either isolated or as part of autoimmune polyglandular syndrome. Antibody to major auto-antigen, 21-hydroxylase, is highly specific for AAD. Read More

    Relative hypoaldosteronism in a patient with Wolcott-Rallison syndrome.
    Diabet Med 2016 Mar;33(3):e13-6
    Department of Genetics, Children's State Hospital of Sanliurfa, Sanliurfa, Turkey.
    Background: Wolcott-Rallison syndrome is an autosomal recessive, multisystem disorder with onset of diabetes in the neonatal period or early infancy.

    Case Report: A 9-year-old girl with diabetes and growth failure from 2 months of age presented with ketoacidosis and multiple organ failure. Evaluation for short stature revealed epiphyseal dysplasia. Read More

    Renal tubular acidosis type IV as a complication of lupus nephritis.
    Lupus 2016 Mar 7;25(3):307-9. Epub 2015 Sep 7.
    Department of Autoimmune Diseases, Hospital Clínic, Barcelona, Catalonia, Spain
    Renal tubular acidosis (RTA) is a rare complication of renal involvement of systemic lupus erythematosus (SLE). We describe a 24-year-old male with type IV lupus nephropathy as a presenting manifestation of SLE. He presented with improvement of renal function following induction therapy with three pulses of methylprednisolone and 500 mg biweekly pulses of cyclophosphamide. Read More

    Dermal and Ophthalmic Findings in Pseudohypoaldosteronism.
    J Clin Res Pediatr Endocrinol 2015 Jun;7(2):155-8
    Erciyes University Faculty of Medicine, Department of Neonatology, Kayseri, Turkey Phone:+90 352 207 66 66 E-mail:
    Pseudohypoaldosteronism (PHA) is defined as a state of resistance to aldosterone, a hormone crucial for electrolyte equilibrium. The genetically transmitted type of PHA is primary hypoaldosteronism. Secondary hypoaldosteronism develops as a result of hydronephrosis or hydroureter. Read More

    Liddle's syndrome: A case report.
    Saudi J Kidney Dis Transpl 2015 Jul-Aug;26(4):769-72
    Department of Internal Medicine, ETSU Quillen College of Medicine, Johnson City, TN, USA.
    Liddle's syndrome or pseudoaldosteronism is a rare autosomal dominant disease mimicking primary hyperaldosteronism, characterized by early-onset hypertension, hypokalemia and hypoaldosteronism, caused by excessive salt and water reabsorption in the distal nephron. As of 2008, there are <30 pedigrees or isolated cases that have been reported worldwide. We present an isolated case of a Liddle's syndrome in a 48-year-old female. Read More

    Endocr Pract 2015 Aug 29;21(8):957-65. Epub 2015 Jun 29.
    Objective: Selective hypoaldosteronism (SH) is a condition manifested by hyperkalemia due to low aldosterone secretion with normal cortisol. One of the obstacles in diagnosis is the awareness of the condition itself. The objective of this review is to highlight what is known about the epidemiology, pathophysiology, etiology, presentation, diagnosis, and treatment of SH. Read More

    The Aldosterone/Renin Ratio as a Diagnostic Tool for the Diagnosis of Primary Hypoaldosteronism in Newborns and Infants.
    Horm Res Paediatr 2015 9;84(1):43-8. Epub 2015 May 9.
    Department of Endocrinology/Diabetology, University Children's Hospital Zurich, Zurich, Switzerland.
    Background/aims: Primary hypoaldosteronism is a rare inborn disorder with life-threatening symptoms in newborns and infants due to an aldosterone synthase defect. Diagnosis is often difficult as the plasma aldosterone concentration (PAC) can remain within the normal range and thus lead to misinterpretation and delayed initiation of life-saving therapy. We aimed to test the eligibility of the PAC/plasma renin concentration (PRC) ratio as a tool for the diagnosis of primary hypoaldosteronism in newborns and infants. Read More

    Postoperative hyperkalemia.
    Eur J Intern Med 2015 Mar 17;26(2):106-11. Epub 2015 Feb 17.
    University of Central Florida, Orlando, FL, USA. Electronic address:
    Hyperkalemia occurs frequently in hospitalized patients and is of particular concern for those who have undergone surgery, with postoperative care provided by clinicians of many disciplines. This review describes the normal physiology and how multiple perioperative factors can disrupt potassium homeostasis and lead to severe elevations in plasma potassium concentration. The pathophysiologic basis of diverse causes of hyperkalemia was used to broadly classify etiologies into those with altered potassium distribution (e. Read More

    Aldosterone deficiency after unilateral adrenalectomy for Conn's syndrome: a case report and literature review.
    Int J Surg Case Rep 2015 10;7C:141-4. Epub 2015 Jan 10.
    Department of Surgery, St. Paul's Hospital, Vancouver, British Columbia, Canada. Electronic address:
    Introduction: Approximately 35% of cases of Conn's syndrome (primary aldosteronism) result from a solitary functioning adrenal adenoma, and these patients are best managed by adrenalectomy. Postoperative hypoaldosteronism after unilateral adrenalectomy is uncommon.

    Case Presentation: We present a case and literature review of hypoaldosteronism after unilateral adrenalectomy for Conn's syndrome, which demonstrates the insidious and sometimes delayed presentation. Read More

    Diabetes mellitus and electrolyte disorders.
    World J Clin Cases 2014 Oct;2(10):488-96
    George Liamis, Evangelos Liberopoulos, Fotios Barkas, Moses Elisaf, Department of Internal Medicine, School of Medicine, University of Ioannina, Stavrou Niarchou Avenue, 45110 Ioannina, Greece.
    Diabetic patients frequently develop a constellation of electrolyte disorders. These disturbances are particularly common in decompensated diabetics, especially in the context of diabetic ketoacidosis or nonketotic hyperglycemic hyperosmolar syndrome. These patients are markedly potassium-, magnesium- and phosphate-depleted. Read More

    Mechanisms of renal control of potassium homeostasis in complete aldosterone deficiency.
    J Am Soc Nephrol 2015 Feb 28;26(2):425-38. Epub 2014 Jul 28.
    Institutes of Anatomy and Zurich Center of Integrative Human Physiology, University of Zurich, Zurich, Switzerland;
    Aldosterone-independent mechanisms may contribute to K(+) homeostasis. We studied aldosterone synthase knockout (AS(-/-)) mice to define renal control mechanisms of K(+) homeostasis in complete aldosterone deficiency. AS(-/-) mice were normokalemic and tolerated a physiologic dietary K(+) load (2% K(+), 2 days) without signs of illness, except some degree of polyuria. Read More

    Pathophysiology, diagnosis, and treatment of mineralocorticoid disorders.
    Compr Physiol 2014 Jul;4(3):1083-119
    Division of Endocrinology, Metabolism, and Clinical Nutrition, Department of Medicine, Medical College of Wisconsin, Menomonee Falls, Wisconsin.
    The renin-angiotensin-aldosterone system (RAAS) is a major regulator of blood pressure control, fluid, and electrolyte balance in humans. Chronic activation of mineralocorticoid production leads to dysregulation of the cardiovascular system and to hypertension. The key mineralocorticoid is aldosterone. Read More

    Disorders of aldosterone synthesis, secretion, and cellular function.
    Curr Opin Pediatr 2014 Aug;26(4):480-6
    Division of Endocrinology and Diabetes, All Children(s Hospital/Johns Hopkins Medicine, St Petersburg, Florida, USA.
    Purpose Of Review: The purpose of this review is to describe the renin-angiotensin-aldosterone system and its regulatory control of sodium, potassium, chloride, hydrogen ion, and water homeostasis through its effects on the expression and activity of distal renal tubular cotransporter proteins and to discuss the gene mutations encoding these structures that disturb the function of this system.

    Recent Findings: Primary hypoaldosteronism may be the result of acquired or congenital errors in renal juxtaglomerular function (the source of renin), angiotensin generation or activity, or aldosterone synthesis. Secondary hypoaldosteronism (pseudohypoaldosteronism) occurs as a consequence of mutations in genes encoding the mineralocorticoid receptor (MR), the three subunits of the aldosterone-responsive, amiloride-sensitive nonvoltage-gated sodium channel encoded by SCNN1A, SCNN1B, and SCNN1G, the gene that regulates posttranslational phosphorylation (encoded by WNK4) of the thiazide-sensitive sodium chloride cotransporter encoded by SLC12A3, and those that regulate phosphorylation and ubiquitination of cofactors encoded by WNK1, KLH3, and CUL3 that affect WNK4 function. Read More

    The clinical significance of aldosterone synthase deficiency: report of a novel mutation in the CYP11B2 gene.
    BMC Endocr Disord 2014 Apr 3;14:29. Epub 2014 Apr 3.
    Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam Road, Pokfulam, Hong Kong.
    Background: Aldosterone synthase (CYP11B2) deficiency is a rare autosomal recessive disorder, usually presenting with severe salt-wasting in infancy or stress-induced hyperkalaemia and postural hypotension in adulthood. Neonatal screening for congenital adrenal hyperplasia, another cause of salt wasting, using 17-hydroxyprogesterone measurement would fail to detect aldosterone synthase deficiency, a diagnosis which may be missed until the patient presents with salt-wasting crisis. Due to this potential life-threatening risk, comprehensive hormonal investigation followed by genetic confirmation for suspected patients would facilitate clinical management of the patient and assessment of the genetic implication in their offspring. Read More

    Adrenocortical function in hypotensive patients with end stage renal disease.
    Steroids 2014 Jun 28;84:57-63. Epub 2014 Mar 28.
    Endocrine Research Department, Instituto de Investigaciones Médicas A.Lanari, University of Buenos Aires, Argentina; Unidad Ejecutora Instituto de Investigaciones Médicas, Consejo Nacional de Investigaciones Científicas y Técnicas, Argentina; Laboratory of Salivary Glands, School of Dentistry, University of Buenos Aires, Argentina.
    Background: Sustained hypotension among patients with end stage renal disease on dialysis (ESRDh) varies from 5.0% to 12.0%. Read More

    Adrenocortical insufficiency is not a problem in preterm infants treated with antifungal prophylaxis with fluconazole.
    Acta Paediatr 2014 Jun 26;103(6):e234-7. Epub 2014 Mar 26.
    Division of Neonatology, Department of Pediatrics, Catholic University of Sacred Heart, Rome, Italy.
    Aim: Fluconazole prophylaxis of invasive fungal infections is a cornerstone of neonatal care, but in vitro studies have shown that it inhibits corticosteroid production. This study assessed whether preterm infants demonstrated an association between fluconazole administration, and its duration, and symptoms of adrenocortical insufficiency.

    Methods: We compared two groups who were treated before and after we introduced the use of fluconazole to our neonatal intensive care unit. Read More

    [Combined blockade of the renin-angiotensin system].
    Bull Acad Natl Med 2014 Feb;198(2):351-62; discussion 362
    Blockade of the renin-angiotensin system (RAS) with angiotensin-converting-enzyme (ACEI) inhibitors or angiotensin II receptor blockers (ARB) has become a major therapeutic tool. Due to internal counter-regulation, however, this system cannot be fully blocked by targeting only one of its components. Instead of increasing the doses of an ACEI, an ARB or a renin inhibitor, blocking RAS at two successive levels neutralizes the consequences of internal counter-regulation and thus provides a more complete blockade with more pronounced biological effects. Read More

    Unmasked renal impairment and prolonged hyperkalemia after unilateral adrenalectomy for primary aldosteronism coexisting with primary hyperparathyroidism: report of a case.
    Surg Today 2015 Feb 17;45(2):241-6. Epub 2013 Dec 17.
    Department of Endocrine Surgery, Fujita Health University School of Medicine, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi, 470-1192, Japan,
    We herein report the case of a patient with critical hyperkalemia after unilateral adrenalectomy (ADX) for aldosterone-producing adenomas, which were coexisting with primary hyperparathyroidism. A right adrenal tumor oversecreting mineral corticoid was identified in a 62-year-old female whose kidney function had been impaired due to primary hyperaldosteronism and hyperparathyroidism. The ADX improved her hypertension with normalization of the plasma aldosterone concentration, but without adequately increasing her plasma renin activity. Read More

    [Tubular renal acidosis].
    Rev Med Interne 2014 Jan 24;35(1):45-55. Epub 2013 Sep 24.
    Université Versailles Saint-Quentin-en-Yvelines, 78000 Versailles, France; Service de néphrologie, hôpital Ambroise-Paré, AP-HP, 92104 Boulogne-Billancourt cedex, France.
    Renal tubular acidosis (RTAs) are a group of metabolic disorders characterized by metabolic acidosis with normal plasma anion gap. There are three main forms of RTA: a proximal RTA called type II and a distal RTA (type I and IV). The RTA type II is a consequence of the inability of the proximal tubule to reabsorb bicarbonate. Read More

    Genetic disorders of potassium homeostasis.
    Semin Nephrol 2013 May;33(3):300-9
    Division of Nephrology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
    Hereditary disorders of potassium homeostasis are an interesting group of disorders, affecting people from the newborn period to adults of all ages. The clinical presentation varies from severe hypotension at birth to uncontrolled hypertension in adults, often associated with abnormal potassium values, although many patients may have a normal serum potassium concentration despite being affected by the genetic disorder. A basic understanding of these disorders and their underlying mechanisms has significant clinical implications, especially in the few patients with subtle clinical signs and symptoms. Read More

    Przegl Lek 2013 ;70(2):69-75
    Klinika Chorób Wewnetrznych i Farmakologii Klinicznej Katedry Farmakologii, Slaski Uniwersytet Medyczny, Katowice.
    Hypoaldosteronism is a clinical condition characterized by a deficiency of aldosterone or its impaired action at the tissue level. The disorder may result from disturbances in renal renin production and secretion, conversion of angiotensin I to angiotensin II, adrenal aldosterone synthesis and secretion, or from abnormal responsiveness of the target tissues to aldosterone. Hypoaldosteronism has a wide spectrum of clinical manifestations, ranging from asymptomatic hyperkalemia to life-threatening depletion of fluid volumes. Read More

    A case of myotonic dystrophy with electrolyte imbalance.
    J Korean Med Sci 2013 Jul 3;28(7):1111-3. Epub 2013 Jul 3.
    Division of Rheumatology, Department of Internal Medicine, School of Medicine, Kyung Hee University, Seoul, Korea.
    Type 1 myotonic dystrophy (DM1) is an autosomal-dominant inherited disorder with a multisystem involvement, caused by an abnormal expansion of the CTG sequence of the dystrophic myotonia protein kinase (DMPK) gene. DM1 is a variable multisystem disorder with muscular and nonmuscular abnormalities. Increasingly, endocrine abnormalities, such as gonadal, pancreatic, and adrenal dysfunction are being reported. Read More

    Paraparesis secondary to hypokalaemia with hyporeninemic hypoaldosteronism during pregnancy: a diagnostic dilemma.
    Obstet Med 2013 Jun 1;6(2):88-89. Epub 2013 Jun 1.
    Staff Specialist, Department of Endocrinology, Queensland Diabetes Centre, Mater Adult Hospital, South Brisbane, Queensland 4101, Australia.
    We report the case of a 22-year-old Ethiopian woman, gravida 1, para 0, who presented at 16 weeks gestation with myalgia and paraparesis. Read More

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