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Renin Deficiency

Deficiency of Angiotensin Forming Enzyme


Presentation

  • We report a case of renal lymphangiectasia in an 8-year-old boy who presented high-renin hypertension, growth hormone deficiency and polycytemia with increased erythropoietin production.[jstage.jst.go.jp]
  • The median, 25th, and 75th percentile of each group are presented.[academic.oup.com]
  • Clinical description FGD usually presents in infancy or early childhood with hyperpigmentation of the skin and gums (present at birth or that develops over time), hypoglycemic seizures and failure to thrive.[orpha.net]
  • It presents at puberty because of reduced adrenal androgen production ( hypogonadism ). Females with 17-hydroxylase deficiency present with delayed puberty : they do not menstruate, and breasts and pubic hair fail to develop.[dermnetnz.org]
  • Case presentation We describe a 33-year old Chinese man who presented in infancy with life-threatening hyponatraemia and failure to thrive, but remained asymptomatic on fludrocortisone since.[bmcendocrdisord.biomedcentral.com]
Virilization
  • Salt-wasting status was examined by sodium deprivation testing in 32 salt-wasting subjects and 14 simple virilizing subjects.[academic.oup.com]
  • We measured PRA and active renin concentrations simultaneously in 39 patients with CAH (30 salt-wasting, 9 simple virilizing) to evaluate the potential role of this new method in the management of this disease.[link.springer.com]
  • Classic 21-hydroxylase deficiency can be divided into 2 forms: Salt wasting Simple virilizing In both forms, adrenal androgen levels are elevated, causing virilization.[merckmanuals.com]
  • Thus, their serum values are similar to those in primary adrenal insufficiency, but adrenal androgen synthesis may be increased, leading to virilization [3].[enotes.tripod.com]
Weight Gain
  • A deceleration in linear growth, weight gain, and head circumference with age and delayed neurologic development were noted in every infant during the first six months of life.[pediatrics.aappublications.org]
  • Too much cortisol from any cause leads to Cushing’s syndrome; the symptoms and signs of which include redistribution of fat to the face, upper back and abdomen, weight gain, stretch marks, bruising, extra hair growth, irregular periods in women, loss[csrf.net]
  • Intravenous infusion of saline began with a weight gain, improvement of her general condition and regular feeding.[file.scirp.org]
Turkish
  • Proc Natl Acad Sci USA 96 : 12790 – 12797 10 ,, ,, ,, ,, ,,, 2003 A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families[academic.oup.com]
Chronic Fatigue Syndrome
  • Friedman has ongoing clinical research studies on the renin-aldosterone axis in chronic fatigue syndrome (CFS) and testosterone replacement in hypopituitary women.[csrf.net]
Developmental Delay
  • However, if they are not treated or if their diets are not regulated for phenylalanine they may go on to show developmental delays and mental retardation.[news-medical.net]
Arthritis
  • Funding and Disclosures Supported in part by a research grant (HE-11046) from the National Heart Institute and a grant (AM-06415) from the National Institute of Arthritis and Metabolic Diseases (the studies were carried out in the General Clinical Research[nejm.org]
Suggestibility
  • The discrepancy in aldosterone response in orthostatic position versus ACTH stimulation test suggested that hypoaldosteronism primarily results from the lack of angiotensin 2 stimulation as a result of hyporeninism.[journals.lww.com]
  • The data suggest that isolated hypoaldosteronism in adults results from a primary deficiency in renin secretion.[nejm.org]
  • Oral sodium load testing is suggested instead. 1[questdiagnostics.com]
  • Many people in the alternative medicine realm suggest increasing intake of salt. I've taken licorice and it seems to improve the symptoms, but I have yet to find a doctor who will investigate this and suggest proper treatment.[wisegeekhealth.com]
  • These findings are suggestive of a decreased activity of cortisol-11β-hydroxysteroid dehydrogenase. Hypertension and hypokalaemia were not influenced by spironolactone and dexamethasone.[karger.com]
Microscopic Hematuria

Workup

  • If the patient is presenting for the first time, order a complete workup for the underlying renal disease.[emedicine.medscape.com]
  • Primary Aldosteronism Workup. Medscape. Available online at . Accessed Jan. 28, 2012. Bartter syndrome. MedlinePlus Medical Encyclopedia. Available online at . Accessed February 2014. Bartter syndrome. Genetics Home Reference. Available online at .[labtestsonline.it]
  • Addison Disease Workup. Available online at emedicine.medscape.com/article /116467. Accessed October 2016. (January 2, 2014) Mayo Clinic. Primary aldosteronism. Available online at . Accessed October 2016.[labtestsonline.org]
  • Addison Disease Workup. Available online at emedicine.medscape.com/article /116467. Accessed October 2016. (January 2, 2014) Mayo Clinic. Primary aldosteronism. Available online at .... Accessed October 2016.[labcorp.com]
Aldosterone Decreased
  • )Decreased aldosterone (hypotension), decreased cortisol, increased androgens: 21 beta-hydroxylase deficiency (CAH) 2)Decreased aldosterone (but hypertension), decreased cortisol, increased androgens: 11 beta-hydroxylase deficiency (CAH) 3)Increased aldosterone[usmleforum.com]
  • Aldosterone Decreased level is seen in: In primary hyperaldosteronism. Salt losing diseases. Toxemia of pregnancy. Decreased Aldosterone without hypertension seen in: Addison's Disease. Syndrome of hyperaldosteronism due to renin deficiency.[labpedia.net]
Decreased Plasma Volume
  • When confirmed, RA axis depression causes latent hypovolemia, meaning that all treatment likely to further decrease plasma volume should be avoided, while this may at times require mineralocorticoid substitution.[journals.lww.com]

Treatment

  • Aldosterone levels may also be affected by renal tubular function and treatment.[academic.oup.com]
  • When confirmed, RA axis depression causes latent hypovolemia, meaning that all treatment likely to further decrease plasma volume should be avoided, while this may at times require mineralocorticoid substitution.[journals.lww.com]
  • Prompt and adequate treatment of a hypoglycemic crisis is essential. Treatment is life-long. Prognosis The prognosis is good for patients who are diagnosed and treated early.[orpha.net]
  • Treatment, which is experimental, must begin in the first several weeks of gestation. Treatment of nonclassic 21-hydroxylase deficiency depends on symptoms. If asymptomatic, no treatment is required.[merckmanuals.com]
  • This article reviews some of the pathophysiologic aspects, the clinical picture, and the treatment strategies of hyporeninemic hypoaldosteronism from the standpoint of clinical presentation, evaluation, and treatment.[emedicine.medscape.com]

Prognosis

  • Prognosis The prognosis is good for patients who are diagnosed and treated early. Only when left untreated is FGD a disease with high morbidity (neurological sequelae) and mortality.[orpha.net]
  • Prognosis. Medscape. Available online at . Accessed February 2014. Bartter syndrome: Overview. Office of Rare Diseases Research. Available online at . Accessed February 2014.[labtestsonline.it]
  • Prognosis. Medscape. Available online at . Accessed February 2014. Bartter syndrome: Overview. Office of Rare Diseases Research. Available online at .[labcorp.com]

Etiology

  • Etiology FGD is due, in most cases, to defects in the adrenocorticotropin (ACTH) receptor, or its signaling pathway, resulting in a failure of the cells of zona fasciculata in the adrenal cortex to respond appropriately to adrenocorticotrophic hormone[orpha.net]
  • (See "Etiology and treatment of hypoaldosteronism (type 4 RTA)", section on Congenital adrenal hyperplasia and isolated hypoaldosteronism, which reviews the biosynthetic defects in this disorder).[enotes.tripod.com]
  • Bartter Syndrome: Background, Pathophysiology, Etiology. Available online at emedicine.medscape.com/article/238670. Accessed October 2016. (July 20, 2016) Griffing GT. Addison Disease Workup.[labtestsonline.org]

Epidemiology

  • Summary Epidemiology The prevalence is unknown. In Ireland there is a prevalence of around 1/200,000, but this is likely to be skewed by a high prevalence in the Irish Traveler sub-population.[orpha.net]
Sex distribution
Age distribution

Pathophysiology

  • This article reviews some of the pathophysiologic aspects, the clinical picture, and the treatment strategies of hyporeninemic hypoaldosteronism from the standpoint of clinical presentation, evaluation, and treatment.[emedicine.medscape.com]
  • Pathophysiology Aldosterone is the adrenal gland hormone (produced in the zona glomerulosa of adrenal cortex) and it helps to control electrolyte balance.[labpedia.net]
  • Bartter Syndrome: Background, Pathophysiology, Etiology. Available online at emedicine.medscape.com/article/238670. Accessed October 2016. (July 20, 2016) Griffing GT. Addison Disease Workup.[labtestsonline.org]
  • Pathophysiology and clinical presentations of salt-losing tubulopathies. Pediatr Nephrol. 2015;[Epub ahead of print]. Poudel A. An adolescent with tingling and numbness of hand: Gitelman syndrome. N Am J Med Sci. 2015;7:27-29.[rarediseases.org]

Prevention

  • With illness, corticosteroid dosages are increased (typically doubled or tripled) to prevent adrenal crisis. Mineralocorticoid replacement is not adjusted.[merckmanuals.com]
  • Your healthcare provider will remove the elastic bland and the needle, and they will apply pressure to the puncture to stop bleeding and help prevent bruising. They will apply a bandage to the puncture site.[healthline.com]
  • Thus, ACE inhibitors prevent the increase in blood pressure caused by aldosterone. Due to Resnick’s discovery, researchers became interested in the effects of vitamin D on RAAS.[vitamindcouncil.org]
  • Facilitates norepinephrine (a type of adrenaline) release from sympathetic nerve endings and inhibits norepinephrine re-uptake by nerve endings (prevents it from being reabsorbed), thereby enhancing sympathetic adrenergic function (again - helps keep[stoppotsvirginia.blogspot.com]
  • Deficiency disorders Insufficient calcitriol prevents normal deposition of calcium in bone. In childhood, this produces the deformed bones characteristic of rickets . In adults, it produces weakened bones causing osteomalacia .[biology-pages.info]

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