Presentation
HALD3 patients present with childhood hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and 18- hydroxycortisol. [malacards.org]
Leading experts from Latin America, Africa, Near and Middle East, Indian Subcontinent, Far East, Oceania and Australia present their expert insights into specific conditions, as well as progress and challenges in the development of the specialty. [books.google.com]
About 1% of patients present with adrenocortical carcinomas that are purely aldosterone-secreting and are usually large at the time of diagnosis; 1% present with familial hyperaldosteronism; and, 1% present with an ectopic aldosterone-producing adenoma [tomwademd.net]
Conclusions: Herein we report on the identification of a novel KCNJ5 germline mutation responsible for severe hyperaldosteronism that presented in infancy with symptoms of diabetes insipidus. [journals.lww.com]
Entire Body System
- Fatigue
Fatigue, and muscle weakness are reported. Complications due to hypertension, chronic increase of aldosterone secretion accompanied with sodium retention and hypokalemia (found in approximately 25% of patients) may occur. [orpha.net]
Those symptoms can include: fatigue. headache. high levels of calcium in the blood. high blood pressure. numbness and muscle weakness. periods of paralysis that come and go. Often, high blood pressure is the only noticeable symptom. [thesurgerygroup.com]
The hypokalemia (low potassium level) can cause symptoms like fatigue, numbness, increased urination, increased thirst, muscle cramps, and muscle weakness. [columbiasurgery.org]
Hypokalemia – which may cause fatigue, headaches, muscle weakness, cramping, and palpitations. Polyuria and polydipsia from hypokalemia-induced nephrogenic diabetes insipidus. Altered insulin and leptin secretion. [bredagenetics.com]
Reported side effects with treatment options are noted below and broken down by system: Spironolactone Cardiovascular: vasculitis Central nervous system: ataxia, confusion, drowsiness, drug fever, fatigue, headache, lethargy Dermatologic: eosinophilia [clinicaladvisor.com]
- Hunting
Much work has been done by the Brisbane group in the hunt for the gene(s) responsible for FH-II: linkage studies have excluded linkage with the AT1, CYP11B2, and MEN1 as well as candidates within the 7p22 locus, such as RBaK, PMS2, and GNA12 ( 25 ). [academic.oup.com]
View Article PubMed Google Scholar Espiner EA, Ross DG, Yandle TG, Richards AM, Hunt PJ: Predicting surgically remedial primary aldosteronism: role of adrenal scanning, posture testing, and adrenal vein sampling. [ojrd.biomedcentral.com]
Gastrointestinal
- Nausea
It can be accompanied with polydipsia, polyuria, nausea, vomiting and headaches. Marked bilateral adrenal hyperplasia has been described. [rarediseases.info.nih.gov]
hyperkalemia (serious, 2%), dehydration, hyperchloremic metabolic acidosis in decompensated hepatic cirrhosis, hyponatremia, impotence, irregular menses, amenorrhea, postmenopausal bleeding Gastrointestinal: anorexia, cramps, diarrhea, gastritis, nausea [clinicaladvisor.com]
Symptoms begin shortly after birth and include poor feeding, nausea, vomiting, fatigue, low blood pressure, muscle weakness, and dehydration. Severe forms of this disorder may lead to metabolic acidosis, where the blood becomes too acidic. [natera.com]
Urogenital
- Incontinence
Surgical Procedures for Sphincteric Incontinence in the Male The Artificial Genitourinary Sphincter and Perineal Sling Procedures 427 Urothelial Tumors of the Bladder 432 NonMuscleInvasive Bladder Cancer Ta T1 and CIS 441 Management of Metastatic and [books.google.com]
Neurologic
- Headache
It can be accompanied with polydipsia, polyuria, nausea, vomiting and headaches. Marked bilateral adrenal hyperplasia has been described. [rarediseases.info.nih.gov]
Patients with profound hypokalemia report fatigue, muscle weakness, cramping, headaches, and palpitations. They can also have polydipsia and polyuria from hypokalemia -induced nephrogenic diabetes insipidus. [wikidoc.org]
Those symptoms can include: fatigue. headache. high levels of calcium in the blood. high blood pressure. numbness and muscle weakness. periods of paralysis that come and go. Often, high blood pressure is the only noticeable symptom. [thesurgerygroup.com]
The hypertension may cause headaches, blurred vision, and dizziness. While patients with hyperaldosteronism may have normal potassium levels, many patients may have low potassium levels. [columbiasurgery.org]
Workup
[…] patients younger than 20 years or those with a family history of PA or stroke at a young age (< 40 y), or with an onset at a young age (eg, < 20 y), genetic testing for glucocorticoid-remediable aldosteronism is suggested. [19, 22] The first step in the workup [tomwademd.net]
Figure 1: Flow chart of diagnostic workup for primary. ldosteronism PAC, plasma aldosterone concentration; PRA, plasma renin activity; ARR, aldosterone/renin ratio; PA, primary aldosteronism; SIT, saline infusion test; AVS, adrenal venous sampling; CT [omicsonline.org]
[…] aldosterone-producing adenoma Aldosterone-producing adenoma is responsible for 30%–50% of cases of PA. 23 Indeed, its prevalence in PA might have been underestimated because of failure to systematically perform adrenal vein sampling in the diagnostic workup [dovepress.com]
X-Ray
- Nephrolithiasis
Calcium Oxalate 2 Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 1 Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 2 Nephronophthisis 3 Nephronophthisis 11 3 Nephronophthisis 12 3 Nephronophthisis 13 2 Nephronophthisis 14 1 Nephronophthisis 15 [preventiongenetics.com]
Treatment
Management and treatment FH-III does not respond to glucocorticoid treatment. [rarediseases.info.nih.gov]
Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.ro]
Is it possible to use calcium channel blockade for medical treatment? Moreover, selective CYP11B2 inhibitors have recently been reported, which could be promising drug candidates for the treatment of aldosterone related diseases [10-12]. [symbiosisonlinepublishing.com]
Prognosis
Prognosis In severe cases treated with bilateral adrenalectomy, life-long glucocorticoid and mineralocorticoid replacement therapy is required. In mild cases, prognosis is good with medical treatment. Last updated: 6/25/2014 [rarediseases.info.nih.gov]
Covers new developments in epidemiology, pathophysiology, immunology, clinical findings, laboratory testing, invasive and non-invasive testing, risk stratification, clinical decision-making, prognosis, and management. [books.google.com]
Prognosis With treatment prognosis is good. The cardiovascular morbidity of FH-II patients is increased compared to patients with essential hypertension. The documents contained in this web site are presented for information purposes only. [orpha.net]
In mild cases, prognosis is good with medical treatment.Visit the Orphanet disease page for more resources. [malacards.org]
Prognosis Prognosis is good in treated patients with primary hyperaldosteronism. However, patients may continue to be hypertensive and require lifelong antihypertensive therapy. Risk factors for long-term hypertension include older age at diagnosis. [patient.info]
Etiology
Epidemiology and Natural History 482 Evaluation and Nonsurgical Management of Benign Prostatic Hyperplasia 486 Minimally Invasive and Endoscopic Management of Benign Prostatic Hyperplasia 493 Retropubic and Suprapubic Open Prostatectomy 496 Epidemiology Etiology [books.google.com]
A lesser common etiology is a renin secreting adenoma from the kidney (McCance et al., 2010). [wikilectures.eu]
Etiology FH-III is due to heterozygous missense mutations of the KCNJ5 gene (11q24), encoding the G- protein -activated inward rectifier potassium channel GIRK-4. [rarediseases.info.nih.gov]
The findings of this study further elucidate the etiology of FH-III and expand our knowledge of this rare condition. Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved. [journals.lww.com]
Epidemiology
[…] and Natural History 482 Evaluation and Nonsurgical Management of Benign Prostatic Hyperplasia 486 Minimally Invasive and Endoscopic Management of Benign Prostatic Hyperplasia 493 Retropubic and Suprapubic Open Prostatectomy 496 Epidemiology Etiology [books.google.com]
Systems affected: cardiovascular, endocrine, renal Synonym(s): hyperaldosteronism, Conn syndrome Epidemiology Since the initial case by Dr. Jerome Conn in 1954, the epidemiology has changed significantly. [unboundmedicine.com]
Pathophysiology
Reviews Mulatero et al. (2013) reviewed the role of KCNJ5 in adrenal pathophysiology and provided an overview of the clinical and biochemical phenotypes resulting from KCNJ5 mutations in patients with sporadic and familial primary aldosteronism. [ncbi.nlm.nih.gov]
[…] biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice 231 Acute and chronic liver disease 250 Glucose metabolism and the pathophysiology [books.google.com]
Prevention
Treatable - 0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary [medicbind.com]
Learn new methods of aggressive patient management and disease prevention to help ensure minimal risk of further cardiovascular problems. Benefit from the authors’ Clinical Pearls to reduce complications of hypertension. [books.google.com]
Completely revised and updated with 80 all-new chapters covering the most important information on current diagnostic, treatment, and preventive challenges facing feline practitioners today, Consultations in Feline Internal Medicine is an invaluable addition [books.google.ro]