215 results match your criteria Hyporeninemic Hypoaldosteronism
BMC Nephrol 2018 May 23;19(1):122. Epub 2018 May 23.
Department of Nephrology and Rheumatology, Iwate Prefectural Central Hospital, 1-4-1, Morioka, 020-0066, Japan.
Background: Liddle's syndrome is a rare monogenic form of hypertension caused by truncating or missense mutations in the C termini of the epithelial sodium channel (ENaC) β or γ subunits. Patients with this syndrome present with early onset of hypertension, hypokalemia, metabolic alkalosis, hyporeninemia and hypoaldosteronism, and a potassium-sparing diuretics (triamterene or amiloride) can drastically improves the disease condition. Although elderly patients having these characteristics were considered to have Liddle's syndrome or Liddle's-like syndrome, no previous report has indicated that Liddle's-like syndrome could be caused by nephrotic syndrome of primary glomerular disease, which is characterized by urinary excretion of > 3 g of protein/day plus edema and hypoalbuminemia, or has explained how the activity function of ENaC could be affected in the setting of high proteinuria. Read More
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
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
J Hypertens 2018 Mar;36(3):619-627
Endocrinology and Diabetes Center, Yokohama Rosai Hospital, Yokohama, Japan.
Objective: To investigate the effect of KCNJ5 mutations on the cure of hypertension in patients with aldosterone-producing adenoma (APA) after unilateral adrenalectomy.
Methods: Our study included 142 patients with APA, who were detected with an endocrinological abnormality and diagnosed with hypertension, as confirmed by pathological analysis. We sequenced KCNJ5, ATP1A1, ATP2B3, CACNA1D, and CTNNB1 from APA tissue samples, and performed a retrospective analysis to determine correlations between wild-type or mutated KCNJ5 and patient clinical characteristics. Read More
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
Endocrine 2017 Jan 7;55(1):19-36. Epub 2016 Dec 7.
Department of Endocrinology, Royal Darwin Hospital, Darwin, NT, Australia.
Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is a rare autosomal recessive genetic disorder. It is caused by reduced or absent activity of 11β-hydroxylase (CYP11B1) enzyme and the resultant defects in adrenal steroidogenesis. The most common clinical features of 11 beta-hydroxylase deficiency are ambiguous genitalia, accelerated skeletal maturation and resultant short stature, peripheral precocious puberty and hyporeninemic hypokalemic hypertension. Read More
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
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
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
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
J Steroid Biochem Mol Biol 2015 Jun 16;150:11-6. Epub 2015 Feb 16.
Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Key Laboratory of Endocrine Tumor, Shanghai Institute of Endocrinology and Metabolism, Rui-Jin Hospital, Shanghai Jiao Tong University School of Medicine, 197 Rui Jin 2nd Road, Shanghai 200025, China. Electronic address:
Background: Combined 17alpha-hydroxylase/17,20-lyase deficiency (17OHD), caused by mutations in the CYP17A1 gene, is a rare autosomal recessive form of congenital adrenal hyperplasia and characterized by hyporeninemic hypokalemic hypertension, primary amenorrhea and absence of secondary sexual characteristics.
Subjects And Methods: Twenty six 17OHD subjects from 23 Chinese families were recruited. The CYP17A1 gene was sequenced and 17alpha-hydroxylase/17,20-lyase enzymatic activities were assessed in vitro. Read More
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
Saudi J Kidney Dis Transpl 2014 Jul;25(4):869-71
Department of Endocrinology, Medwin Hospital, Hyderabad, India.
Liddle's syndrome is a rare cause of secondary hypertension. Identification of this disorder is important because treatment differs from other forms of hypertension. We report an interesting case of a 35-year-old lady, a known diabetic and hypertensive patient, who presented with features of hypertensive encephalopathy. Read More
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
Arq Bras Endocrinol Metabol 2012 Nov;56(8):574-7
Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Maternally-inherited diabetes with deafness (MIDD) is a rare form of monogenic diabetes that results, in most cases, from an A-to-G transition at position 3243 of mitochondrial DNA (m.3243A>G) in the mitochondrial-encoded tRNA leucine (UUA/G) gene. As the name suggests, this condition is characterized by maternally-inherited diabetes and bilateral neurosensory hearing impairment. Read More
J Steroid Biochem Mol Biol 2013 Jan 3;133:25-9. Epub 2012 Sep 3.
Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Key Laboratory of Endocrine Tumor, Shanghai Institute of Endocrinology and Metabolism, Rui-Jin Hospital, Shanghai Jiao Tong University School of Medicine, 197 RuiJin 2nd Road, Shanghai 200025, China.
Unlabelled: 11β-Hydroxylase deficiency (11β-OHD), caused by CYP11B1 mutations, is characterized by hyporeninemic, hypokalemic hypertension and hyperandrogenism. We identified a prevalent and three novel mutations of CYP11B1 gene in nine patients with classic 11β-OHD.
Subjects And Methods: Nine patients with 11β-OHD from unrelated families were recruited. Read More
Am J Kidney Dis 2012 Sep 18;60(3):444-8. Epub 2012 Apr 18.
Department of Internal Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
The role of neurohumoral factors in the sodium retention of nephrotic syndrome is controversial. We report a case with abrupt onset of severe nephrotic-range proteinuria and hypoalbuminemia due to membranous glomerulonephritis that was associated with renal salt wasting and hypovolemia without edema. Further evaluation showed hypoaldosteronism, hyporeninemia, and primary autonomic failure principally affecting the sympathetic nervous system, determined by the Valsalva maneuver. Read More
Wiad Lek 2012 ;65(4):239-42
Klinika Chorób Wewnetrznych i Farmakologii Klinicznej, Katedra Farmakologii, Slaski Uniwersytet Medyczny w Katowicach.
Hypoaldosteronism is a clinical condition resulting from inadequate stimulation of aIdosterone secretion (hyporeninemic hypoaIdosteronism), defects in adrenal synthesis of aldosterone (hyperreninemic hypoaldosteronism), or resistance to the peripheral action of this hormone (pseudohypoaldosteronism). The disease is characterized by a wide spectrum of clinical manifestations, ranging from asymptomatic hyperkalemia to life-threatening volume depletion, and, if unrecognized and untreated, it increases morbidity and mortality rates. In this paper, we report a case of a woman diagnosed with autoimmune polyglandular syndrome type 2. Read More
Hum Mol Genet 2012 Mar 14;21(5):1025-36. Epub 2011 Nov 14.
Department of Cardiac Development and Remodelling, Max Planck Institute for Heart and Lung Research, Ludwigstrasse 43, D-61231 Bad Nauheim, Germany.
The human SLC4A5 gene has been identified as a hypertension susceptibility gene based on the association of single nucleotide polymorphisms with blood pressure (BP) levels and hypertension status. The biochemical basis of this association is unknown particularly since no single gene variant was linked to hypertension in humans. SLC4A5 (NBCe2, NBC4) is expressed in the collecting duct of the kidney and acts as an electrogenic ion-transporter that transports sodium and bicarbonate with a 1:2 or 1:3 stoichiometry allowing bicarbonate reabsorption with relatively minor concurrent sodium uptake. Read More
J Vet Intern Med 2011 Jul-Aug;25(4):944-8. Epub 2011 Jun 22.
Miami Veterinary Specialists, Miami, FL 33143, USA.
Kidney Int 2009 May;75(10):1113; author reply 1113-4
Pediatr Nephrol 2009 Sep 3;24(9):1771-2. Epub 2009 Feb 3.
Clin Nephrol 2008 Oct;70(4):348-53
Department of Medicine, The Japan Self Defense Forces Central Hospital, Tokyo, Japan.
Aim: To contribute to understanding the pathogenesis of hyperkalemia that often occurs in patients with diabetes.
Materials And Methods: We describe 3 familial cases of mitochondrial diabetes mellitus. The mitochondrial A3243G point mutation was confirmed in a mother and her 2 children. Read More
Kidney Int 2008 Aug;74(4):542
Kidney Center, Toranomon Hospital, Tokyo, Japan.
Clin Nephrol 2006 Jul;66(1):63-6
Department of Pediatrics, University of Florence, Via Luca Giordano 13, 50132 Firenze, Italy.
The patients affected by vitamin B12-unresponsive methylmalonic acidemia (MMA) on the long run develop chronic renal disease with interstitial nephropathy and progressive renal insufficiency. The mechanism of nephrotoxicity in vitamin B12-unresponsive MMA is not yet known. Chronic hyporeninemic hypoaldosteronism has been found in many cases of methylmalonic acidemia, hyperkalemia and renal tubular acidosis type 4. Read More
Am Fam Physician 2006 Jan;73(2):283-90
Department of Family Medicine, Oregon Health & Science University, Portland, Oregon, USA.
Hyperkalemia is a potentially life-threatening metabolic problem caused by inability of the kidneys to excrete potassium, impairment of the mechanisms that move potassium from the circulation into the cells, or a combination of these factors. Acute episodes of hyperkalemia commonly are triggered by the introduction of a medication affecting potassium homeostasis; illness or dehydration also can be triggers. In patients with diabetic nephropathy, hyperkalemia may be caused by the syndrome of hyporeninemic hypoaldosteronism. Read More
Int J Mol Med 2003 Jul;12(1):115-9
Department of Histology and Embryology, Karol Marcinkowski University of Medical Sciences, PL-60781 Poznan, Poland.
Many lines of evidence have shown that preproglucagon-derived peptides affect steroid secretion from dispersed adrenocortical cells, and that streptozotocin (STZ)-induced experimental diabetes alters adrenocortical-cell function. Hence, we compared the effects of glucagon, glucagon-like peptide (GLP)-1 and GLP-2 on basal and ACTH-stimulated secretion of dispersed adrenocortical cells from normal and STZ-induced diabetic rats. We also examined the effects of exendins (EX) 3 and 4, because EX4 is known to be a potent and long-lasting agonist of GLP-1 receptors. Read More
Pediatr Nephrol 2002 Nov 11;17(11):959-63. Epub 2002 Oct 11.
Department of Pediatrics, Niigata City General Hospital, 2-6-1 Shichikuyama, Niigata 950-8739, Japan.
While hyporeninemic hypoaldosteronism (HH) has been well described in relation to chronic renal diseases, transient HH has rarely been reported. Here we present a 9-year-old boy with acute glomerulonephritis who developed hyperkalemia, which persisted for a period of 3 weeks despite normal values of creatinine clearance and an absence of acidosis. He was diagnosed as having HH because of low basal plasma renin activity and serum aldosterone level. Read More
Am J Med 2002 Feb;112(3):245-6
Metabolism 2002 Mar;51(3):350-5
Department of Medicine, Yokohama Rosai Hospital, Yokohama, Kanagawa, Japan.
Primary aldosteronism is classified as aldosterone-producing adenoma (APA), idiopathic hyperaldosteronism (IHA), unilateral adrenal hyperplasia (UAH), primary adrenal hyperplasia (PAH), adrenal cancer, and glucocorticoid-remediable aldosteronism. We describe here 4 cases of primary aldosteronism due to unilateral hyperaldosteronemia, demonstrating unique histopathologic findings, such as unilateral multiple adrenocortical micronodules in the affected adrenals. Thirty-three patients with primary aldosteronism were consecutively admitted; 27 of them were treated by unilateral adrenalectomy. Read More
Nihon Rinsho 2001 Dec;59 Suppl 8:177-83
Department of Internal Medicine 3, Fukushima Medical University School of Medicine.
Med Clin (Barc) 1999 Nov;113(15):579-82
Unidad de Nefrología Pediátrica, Hospital General, Valencia.
Background: The first family diagnosed in Spain of glucocorticoid remediable aldosteronism (GRA) is reported.
Subjects And Methods: We described the phenotype, biochemical values and genetic diagnosis of a GRA pedigree. DNA analysis was performed by using Southern-blot and polymerase chain reaction. Read More
Pediatr Nephrol 1999 Nov;13(9):846-9
Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160, Japan.
We describe a girl with lupus nephritis who presented with distal renal tubular acidosis and hyporeninemic hypoaldosteronism. While distal tubular dysfunction is well recognized in adult systemic lupus erythematosus (SLE), only a few pediatric patients have been reported. Evaluation of five pediatric patients with SLE revealed that distal tubular dysfunction in childhood and adolescence is rare. Read More
Diabetes Metab 1999 Sep;25(4):344-6
Department of Internal Medicine, University of Ioannina Medical School, Greece.
Patients with hyporeninemic hypoaldosteronism show mild to moderate renal insufficiency, with a creatinine clearance of 20-75 ml/min, and asymptomatic hyperkalemia. A low degree of sodium wasting and mild hyperchloremic metabolic acidosis are also usually present. However, severe sodium wasting and volume depletion are not typically seen unless the patient is placed on severe sodium restriction or has some other cause of extrarenal sodium loss. Read More
Rev Med Chil 1999 May;127(5):604-10
Departamentos de Endocrinología y Medicina Interna, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago de Chile.
Recently, some genetic forms of hypertension have been well characterized. These forms can be globally called mineralocorticoid hypertension and are due to different alterations of the renin-angiotensin-aldosterone system (SRAA). Among these, classic primary hyperaldosteronism and its glucocorticoid remediable variety, in which hypertension is secondary to aldosterone production, must be considered. Read More
Rev Med Chil 1999 May;127(5):511-3
There is a group of genetic alterations that are phenotypically related to mineralocorticoid hypertension. They include, among others, some forms of primary hyperaldosteronism and of hyporeninemic aldosteronism that can be specifically treated, thus becoming secondary forms of hypertension. These could account for 10 to 15% of cases of essential hypertension, but more studies are required to accept these figures. Read More
Kidney Int 1999 Jul;56(1):198-205
Fundación Jiménez Díaz, Hospital Clinico and Hospital 12 de Octubre, Universidad Autónoma, Madrid, Spain.
Background: The appearance of hyperkalemia has been described in human immunodeficiency virus (HIV)-positive patients treated with drugs with amiloride-like properties. Recent in vitro data suggest that individuals infected with HIV have alterations in transcellular K+ transport.
Methods: With the objective of examining the presence of alterations in transmembrane K+ equilibrium in HIV-positive patients, we designed a prospective, interventional study involving 10 HIV-positive individuals and 10 healthy controls, all with normal renal function. Read More
J Endocrinol Invest 1999 May;22(5):369-76
Department of Endocrinology, University Hospital Utrecht, The Netherlands.
Selective iron deposition in the zona glomerulosa of the adrenal cortex is observed in hemochromatosis. Hypoaldosteronism should be excluded before starting venesection, to avoid long-term volume depletion. We evaluated the aldosterone status in patients with hemochromatosis. Read More
Pediatr Nephrol 1999 Apr;13(3):230-2
Department of Pediatrics and Laboratory Medicine, Fukui Medical University, Matsuoka, Japan.
We describe an 11-month-old boy who presented clinically with hyperkalemic renal tubular acidosis due to hyporeninemic hypoaldosteronism. Persistent hyperchloremic acidosis and mild azotemia were present. All abnormal laboratory values were corrected by the administration of fludrocortisone. Read More
Vitam Horm 1999 ;57:177-216
National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.
Aldosterone participates in blood volume and serum potassium homeostasis, which in turn regulate aldosterone secretion by the zona glomerulosa of the adrenal cortex. Autonomous aldosterone hypersecretion leads to hypertension and hypokalemia. Improved screening techniques have led to a re-evaluation of the frequency of primary aldosteronism among adults with hypertension, recognizing that normokalemic cases are more frequent than was previously appreciated. Read More
Am J Kidney Dis 1999 May;33(5):947-53
Department of Medicine, Mount Sinai Hospital, Toronto, Canada.
The association of anemia and hyporeninemic hypoaldosteronism (HRHA) in type 1 diabetes has been described, and erythropoietin deficiency has been proposed as the cause. Subjects with type 1 diabetes with (n = 8) and without HRHA (n = 11) were studied, as were subjects taking angiotensin-converting enzyme inhibitors (ACEIs; n = 10). Renal function and sodium excretion were estimated with a 24-hour urine collection. Read More
CMAJ 1998 Nov;159(10):1279-81
Servei d'Endocrinologia, Hospital de Sant Pau, Universitat Autònoma de Barcelona, Spain.
Acute renal failure and hyperkalemia due to angiotensin-converting enzyme inhibitors have been described in diabetic patients with other predisposing conditions. The case reported here involves a patient with type 1 diabetes mellitus, microalbuminuria and normal renal function who was treated with enalapril. Two years after initiation of this therapy, at a time when glycemic control was poor, he presented with symptomatic hyperkalemia and impaired renal function accompanied by hyporeninemic hypoaldosteronism. Read More
J Lab Clin Med 1998 Sep;132(3):229-35
Department of Medicine, Lenox Hill Hospital, and the Cardiovascular Center, Cornell University Medical College, New York, New York, USA.
Thirty-four patients (65.3+/-3.3 years of age, mean+/-SEM) with hyperkalemia (serum potassium >5. Read More
J Clin Endocrinol Metab 1998 Jul;83(7):2244-54
Department of Pediatrics, New York Hospital-Cornell Medical Center, New York 10021, USA.
Apparent mineralocorticoid excess (AME) is a genetic disorder causing pre- and postnatal growth failure, juvenile hypertension, hypokalemic metabolic alkalosis, and hyporeninemic hypoaldosteronism due to a deficiency of 11 beta-hydroxysteroid dehydrogenase type 2 enzyme activity (11 beta HSD2). The 11 beta HSD2 enzyme is responsible for the conversion of cortisol to the inactive metabolite cortisone and therefore protects the mineralocorticoid receptors from cortisol intoxication. Several homozygous mutations are associated with this potentially fatal disease. Read More
Clin Transplant 1998 Jun;12(3):159-64
Department of Nephrology and Rheumatology, Heinrich Heine University, Düsseldorf, Germany.
When renal amyloidosis has progressed to end-stage renal failure, most patients are severely affected by systemic amyloidosis and nephropathy. An alternative to chronic dialysis is renal transplantation. We present a patient with amyloid nephropathy who developed recurrent transplant amyloidosis. Read More
An Med Interna 1998 May;15(5):285-6
Am J Nephrol 1998 ;18(3):251-5
Servizio di Nefrologia e Dialisi, Ospedale di Leno, BS, Italia.
Five nephrotic patients, who did not present sodium retention when on sodium balance, have been studied. All had membranous nephropathy, were normotensive and renal function was normal in 2 and slightly reduced in 3. The following parameters were measured: 24-hour excretion of aldosterone, the response of plasma renin activity (PRA) and of plasma aldosterone to upright posture, postural changes of the fractional excretion of sodium and lithium, and natriuretic response to spironolactone. Read More