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hypoaldosteronism

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https://www.readbyqxmd.com/read/29792170/liddle-s-like-syndrome-associated-with-nephrotic-syndrome-secondary-to-membranous-nephropathy-the-first-case-report
#1
Eriko Yamaguchi, Kazuhiro Yoshikawa, Izaya Nakaya, Karen Kato, Yoshikazu Miyasato, Terumasa Nakagawa, Yutaka Kakizoe, Masashi Mukoyama, Jun Soma
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...
May 23, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/29702750/in-systemic-pseudohypoaldosteronism-type-1-skin-manifestations-are-not-rare-and-the-disease-is-not-transient
#2
Aaron Hanukoglu, Israel Hanukoglu
We read with interest the recent paper by Turan et al. (published online April 18, 2018) on eight patients with hypoaldosteronism resulting from biosynthetic defects of aldosterone secretion (3 cases) or aldosterone insensitivity syndromes named as pseudohypoaldosteronism type 1 (PHA) (5 cases).1 In 1991, we described for the first time that PHA type I may appear in two forms with distinct clinical, genetic, and endocrine characteristics.2 These two forms were named as the renal form, and the systemic (multi-system) form of PHA...
April 27, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29662328/hyporeninemic-hypoaldosteronism-in-a-patient-with-diabetes-mellitus-an-unforgettable-case-report
#3
Naziha Chelaghma, Samson O Oyibo
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. He was not on any medication or diet that would cause a raised serum potassium level and his renal function was normal...
2018: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/29582446/molecular-genetic-studies-in-a-case-series-of-isolated-hypoaldosteronism-due-to-biosynthesis-defects-or-aldosterone-resistance
#4
Ihsan Turan, Leman Damla Kotan, Mehmet Tastan, Fatih Gurbuz, Ali Kemal Topaloglu, Bilgin Yuksel
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. Molecular genetic analyses can help to greatly clarify this complexity. The aim of this study was to obtain an overview of the clinical and genetic characteristics of patients with aldosterone defects due to biosynthesis defects or aldosterone resistance...
March 27, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29319780/diabetes-mellitus-and-hyperkalemic-renal-tubular-acidosis-case-reports-and-literature-review
#5
Carlos Henrique Pires Ratto Tavares Bello, João Sequeira Duarte, Carlos Vasconcelos
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...
October 2017: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29201470/a-novel-mutation-of-the-cyp11b2-in-a-saudi-infant-with-primary-hypoaldosteronism
#6
Lama Alfaraidi, Abrar Alfaifi, Rawan Alquaiz, Faten Almijmaj, Horia Mawlawi
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. Blood samples were collected for endocrine and genetic studies. Sequence analysis of the CYP11B2 revealed a T to A transition at position 1398 + 2 in exon 8 of the gene in a homozygous state (c...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28937080/branchio-oto-renal-syndrome-presenting-with-syndrome-of-hyporeninemic-hypoaldosteronism
#7
Jane Jackie David, Preeti Shanbag
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.
September 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28845624/prenatal-treatment-with-dexamethasone-in-suspected-congenital-adrenal-hyperplasia-and-orofacial-cleft-a-case-report-and-review-of-the-literature
#8
REVIEW
Yvonne Rijk, Janielle van Alfen-van der Velden, Hedi L Claahsen-van der Grinten
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. We present the first case of a girl who was born with CAH and an orofacial cleft. She was treated with prenatal DXM to prevent virilization...
September 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28747362/alterations-of-adrenal-steroidomic-profiles-in-preterm-infants-at-birth
#9
MULTICENTER STUDY
Simon Travers, Laetitia Martinerie, Pascal Boileau, Marc Lombès, Eric Pussard
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). DESIGN: Multicentre study (Premaldo) including 152 neonates classified into three groups: group 1 (very preterm (VPT)): <33  gestational weeks (GW); group 2 (preterm (PT)): 33-36 GW and group 3 (term (T)): ≥GW...
March 2018: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/28637561/considering-postoperative-functional-hypoaldosteronism-after-unilateral-adrenalectomy
#10
Lee F Starker, Ioannis Christakis, Jamii St Julien, Kelly Schwarz, Paul Graham, Elizabeth G Grubbs, Jeffrey E Lee, Nancy D Perrier
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. A single-institution retrospective review of all patients with biochemically proven hyperaldosteronism from 2005 to 2014 that underwent unilateral adrenalectomy. A total of 29 patients fit the inclusion criteria. Functional hypoaldosteronism had appreciated in 18/29 (62%) patients, whereas 11 patients (38%) had normal postoperative aldosterone...
June 1, 2017: American Surgeon
https://www.readbyqxmd.com/read/28491445/primary-adrenal-lymphoma-causing-hypoaldosteronism-in-a-cat
#11
Jessica F Romine, Angela R Kozicki, Marc S Elie
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. Serum biochemical analysis identified normokalemia (5.1 mmol/l; reference interval [RI] 3.4-5.6 mmol/l) and severe hyponatremia (123 mmol/l; RI 145-158 mmol/l), with an Na/K ratio of 24 (RI 32-41). Baseline serum cortisol was low to normal, but serum aldosterone was markedly decreased with a pre-adrenocorticotropic hormone stimulation concentration of 13 pmol/l (RI 194-388 pmol/l) and post-adrenocorticotropic hormone stimulation concentration of 21 pmol/l (RI 277-721 pmol/l)...
July 2016: JFMS Open Reports
https://www.readbyqxmd.com/read/28286482/restoration-of-epithelial-sodium-channel-function-by-synthetic-peptides-in-pseudohypoaldosteronism-type-1b-mutants
#12
Anita Willam, Mohammed Aufy, Susan Tzotzos, Heinrich Evanzin, Sabine Chytracek, Sabrina Geppert, Bernhard Fischer, Hendrik Fischer, Helmut Pietschmann, Istvan Czikora, Rudolf Lucas, Rosa Lemmens-Gruber, Waheed Shabbir
The synthetically produced cyclic peptides solnatide (a.k.a. TIP or AP301) and its congener AP318, whose molecular structures mimic the lectin-like domain of human tumor necrosis factor (TNF), have been shown to activate the epithelial sodium channel (ENaC) in various cell- and animal-based studies. Loss-of-ENaC-function leads to a rare, life-threatening, salt-wasting syndrome, pseudohypoaldosteronism type 1B (PHA1B), which presents with failure to thrive, dehydration, low blood pressure, anorexia and vomiting; hyperkalemia, hyponatremia and metabolic acidosis suggest hypoaldosteronism, but plasma aldosterone and renin activity are high...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28090048/hyponatremia-in-an-elderly-patient-due-to-isolated-hypoaldosteronism-occurring-after-licorice-withdrawal
#13
Yuji Hataya, Akifumi Oba, Takafumi Yamashita, Yasato Komatsu
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. He had been taking a very small dose of licorice as a mouth refresher since his early adulthood. Five months after licorice withdrawal, he developed hypovolemic hyponatremia, which was resolved with administration of fludrocortisone acetate...
2017: Internal Medicine
https://www.readbyqxmd.com/read/27999512/review-of-the-diagnostic-evaluation-of-renal-tubular-acidosis
#14
REVIEW
Julian Yaxley, Christine Pirrone
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. RESULTS: The 3 major forms of disease are classified by their respective tubular transport defects, each of which produces persistent hyperchloremic metabolic acidosis...
2016: Ochsner Journal
https://www.readbyqxmd.com/read/27468039/hypoaldosteronism-in-a-matschie-s-tree-kangaroo-dendrolagus-matschiei
#15
Sophie T Whoriskey, Susan L Bartlett, Eric Baitchman
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. The animal was successfully managed with mineralocorticoid replacement using desoxycorticosterone pivalate...
June 2016: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
https://www.readbyqxmd.com/read/27369102/-gordon-syndrome-the-importance-of-measuring-blood-pressure-in-children
#16
A Bruel, R Vargas-Poussou, X Jeunemaitre, A Labbe, E Merlin, L Bessenay
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. Dental abnormalities and growth retardation can also be associated...
August 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27297451/sfe-sfhta-afce-consensus-on-primary-aldosteronism-part-6-adrenal-surgery
#17
Olivier Steichen, Laurence Amar, Philippe Chaffanjon, Jean-Louis Kraimps, Fabrice Ménégaux, Franck Zinzindohoue
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. Intraoperative morbidity and mortality are low in reference centers, and day-surgery is warranted in selected cases. Spironolactone administered during the weeks preceding surgery controls hypertension and hypokalemia and may prevent postoperative hypoaldosteronism...
July 2016: Annales D'endocrinologie
https://www.readbyqxmd.com/read/27170242/use-of-renin-angiotensin-system-inhibitors-in-patients-with-chronic-kidney-disease
#18
W R Adam, J R Wright
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...
May 2016: Internal Medicine Journal
https://www.readbyqxmd.com/read/26989116/renal-tubular-acidosis-type-4-in-pregnancy
#19
Adam Daniel Jakes, Kevin Baynes, Catherine Nelson-Piercy
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. We advise regular monitoring of potassium and pH throughout pregnancy to ensure safe levels are maintained.
March 17, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/26981183/hyporeninemic-hypoaldosteronism-and-diabetes-mellitus-pathophysiology-assumptions-clinical-aspects-and-implications-for-management
#20
REVIEW
André Gustavo P Sousa, João Victor de Sousa Cabral, William Batah El-Feghaly, Luísa Silva de Sousa, Adriana Bezerra Nunes
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...
March 10, 2016: World Journal of Diabetes
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