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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
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
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
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
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)): ≥37 GW...
July 26, 2017: Archives of Disease in Childhood. Fetal and Neonatal Edition
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
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
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
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
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
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
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
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
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
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
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
Maryam Razzaghy-Azar, Mabel Yau, Ahmed Khattab, Maria I New
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...
January 2017: Journal of Steroid Biochemistry and Molecular Biology
Daniel W Nelson, George E Black, Richard L Thomas, Matthew J Eckert, Zachary S Hoffer, Matthew J Martin
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...
December 2015: Journal of Trauma and Acute Care Surgery
Meta Phoojaroenchanachai, Peera Buranakitjaroen, Chanin Limwongse
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. DNA sequencing resulted in exon 13 of SCNN1B gene: SCNN1B NM_000336.2:c.1 724_1730dupGGCCCAC [p.Pro5 75Argfs*17]...
October 2015: Journal of the Medical Association of Thailand, Chotmaihet Thangphaet
Andrew D Woolcock, Cynthia Ward
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.
November 2015: Canadian Veterinary Journal. la Revue Vétérinaire Canadienne
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