INTRODUCTION →Bartter’s Syndrome, or hypochloremic metabolic alkalosis, is a disorder involving a set of three other closely related disorders. These rare congenital Bartter-like syndromes share many pathophysiological simularities, but differ in the age of onset and the location of genetic problems in the nephron (Guay-Woodford). →Most of those affected are diagnosed at a very young age, usually within the first 30 weeks of gestation but as late adelescence, and there does not appear to be an racial or ethnic correlation with the disease, however it can be found to be passed on in families via an autosomal-recessive mode of inheritance(Guay-Woodford). The condition is caused by defects in the kidneys capabilities to reabsorb sodium resulting …show more content…
The primary defect is impaired thick ascending limb (TAL) Cl2- reabsorption due either to mutations in the genes encoding the BSC or the ROMK.(Guay-Woodford) → The most accepted explanation for classic Bartter syndrome involves a primary defect in Cl transport in the TAL (Guay-Woodford). Loop diuretics (Figure 1) abuse can result in symptoms of Bartter syndrome, for example persons who abuse loop diuretics for purposes of weight loss can lead to a pseudo-Bartter syndrome(Guay-Woodford). This drug inhibits the BSC, which can often be one of the proteins affected by genetic mutation in Bartter syndroms. Determination of patients exibiting symptoms of Bartter syndrome begins with the identification of any vomiting, diuretic abuse, or laxative abuse, as well as family history since the disorder is often genetic(Guay-Woodford). →Two major factors directly affect the rate of K+ secretion: aldosterone and NaCl delivery to the ASDN(aldosterone-sensitive distal nephron) and due to defects and increasing aldosterone secretions, delivery of Na+ downstream to the ASDN increases and subsequently so does K+ (Warnock, …show more content…
Loop diuretics can result in a increase excretion of Mg2+. It is not completely understood why then Magnesium excretion is not seen as commonly in Bartter’s syndrome since the problem often occurs with the BSC and loop diuretics inhibit BSC actions(Warnock, 2002). It is possible the distal convoluted tubule (DCT) makes up for the increase in Mg2+ in the lumen in increasing the amount of channels. Metabolic alkalosis and ADH can also stimulate Mg2+ transport in the DCT, and aldosterone can increase the effects of ADH. Based on this, it appears that Mg2+ secretion may be determined by hormonal action on the DCT, and since aldosterone levels are seen to be higher in Bartter syndrome patients, this could explain the lack of Mg2+ wasting in some
Vital to maintenance of homeostasis is the regulation of plasma osmolality. The Renin-Angiotensin-Aldosterone system, which works to regulate blood pressure, plays a crucial role in fluid balance. When dehydration occurs, blood osmolality increases, which stimulates the release of antidiuretic hormone (ADH), ultimately leading to increased water reabsorption. This leads to more concentrated urine, and less concentrated plasma. Low plasma osmolality works in the opposite fashion: ADH release is inhibited, water reabsorption decreases, and urine is less concentrated. The added electrolytes and carbohydrates in Gatorade would facilitate greater fluid retention through stimulation of renin and vasopressin, increasing urinary sodium reabsorption (3). Studies of both urine volume and plasma volume changes are eff...
Renin angiotensin system activation: Because of decreased blood flow to the kidneys the compensatory mechanisms activate to hold on to sodium and water. When the Blood flow is decreased Angiotensin II is released causing vasoconstriction
This leads to the continued release of ACTH, resulting in a surplus of 17-OHP, which is converted in the a...
(Calendar 2013) Waardenburg Syndrome is a rare genetic disorder meaning that is caused by a mutation of genes. The disorder is classified as type I, II, III, or IV based on inheritance pattern and symptoms (Genetics 2013). Waardenburg Syndrome is an incurable disorder that is inherited from either one or both parents. If it came from one parent, it is an autosomal dominant pattern and if it came from both, it is known as an autosomal recessive pattern (Calendar 2013).
Diabetes mellitus, habitually referred to as diabetes is caused by a decline in insulin secretion by the cells of the pancreatic islet resulting into a surge in blood glucose concentration, a condition known as hyperglycemia. Diabetes insipidus is a disorder defined by the secretion of huge quantities of highly diluted urine, this is regardless if a reduction in fluid intake. This is as a result of a deficit of anti-diuretic hormone (ADH) also known as vasopressin produced by the posterior pituitary gland. The disorder diabetes mellitus is associated by extreme reduction in weight, a higher urge for urination, also known as polyuria, higher levels of thirst (polydipsia) and an extreme craving to eat known as polyphagia. This disorder has been categorized as Type 1 or insulin dependent diabetes and Type 2 or non-insulin dependent diabetes another type is the Gestational diabetes. The Type 1 diabetes mellitus is portrayed by a deficiency of the insulin-secreting beta cells of the islets of Langerhans found in the pancreas, this leads to a shortage of insulin. The principal cause for this deficiency of beta cells is a T-cell mediated autoimmune onslaught. In children, Type1 diabetes is known as juvenile diabetes. The Type 2 diabetes mellitus is as a result of insulin resistance or diminished insulin sensitivity coupled to a reduction in insulin production.
Wolf-Hirschhorn syndrome (WHS), first described by Wolf et al[1] and Hirschhorn et al[2], results from the hemizygous deletion of the distal short arm of chromosome 4. Due to the complex and unmarked expression of this disorder, the WHS syndrome is presumed to be a contiguous gene syndrome with an indeterminate number of genes responsible for the phenotype i.e. a multigenic etiology. [3][4]
Addison’s disease is a disorder of the endocrine system. It is a hormonal disorder that can strike anyone, any gender at any age. Addison’s disease has also been called Adrenal Insufficiency (hypocortisolism) because the root of the disease is in the adrenal gland not producing enough of the hormone cortisol, or sometimes not enough of the hormone aldosterone to satisfy the body’s needs.
... potassium level is higher than 4.5 mmol/liters. If further diuretic therapy is not tolerated, contraindicated or ineffective, considering an alpha- or beta-blocker might be prudent. If blood pressure remains uncontrolled with optimal or maximum tolerated doses of four drugs, seeking an expert advice would be the next and last step (Williams, 2013).
Simon, E. J., Reece, J. B., Dickey, J. L. (02/2012). Campbell Essential Biology with Physiology, 4th Edition [VitalSource Bookshelf version 6.2]. Retrieved from http://online.vitalsource.com/books/9781256902089
Maple syrup urine disease is a rare autosomal recessive disorder of branched-chain amino acid metabolism leading to life-threatening cerebral edema, a swelling caused by excessive fluid in the brain and dysmyeination, malformed and defective myelin sheath, in affected individuals. Maple syrup urine disease is associated with a worldwide frequency of about 1 in 180,000 infants.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease. This type is passed from parent to child by an autosomal dominant type of inheritance. This means that only one copy of the abnormal gene is needed to cause the disease. Therefore, if one p...
According to the results of the tests, the patient syndrome is caused by either of the two; minimal change and focal segmental glomerulosclerosis. The pathophysiologies of the disease are primary glomerular defect and circulating permeability factor and inhibitors. The primary glomerular defect of nephrotic syndrome leads to leakage of high molecular mass proteins that’s equivalent to the size of albumin of approximately 66 kD, with haemostatic proteins of a similar size also being excreted pathologically in the urine (Eddy AA and Symons JM, 2003). Due to these excretion; prominent loss of important coagulation regulatory proteins such as antithrombin and protein S.
These wastes are derived from the liquid and food that the individual had consumed. In cases of compromised kidney function, the kidneys are no longer able to remove or filter wastes in the normal way. This means that wastes are left to accumulate in the bloodstream. When this scenario takes hold, it can negatively impact the patient 's electrolytes, therefore, positive action has to be taken to optimize the situation. When patients follow a renal diet it can help to slow down the advancement of total kidney failure, and ameliorate kidney function. Along with chloride and potassium, sodium represents one of the body 's main three electrolytes. The latter manipulate the fluids with enter and leave the body’s cells and tissues. Therefore, patients with renal disease must monitor their intake of electrolytes. Keeping a daily food dairy is essential (Nephcure), and will be of great benefit to the dietitian who can pinpoint certain details.
§ This allows more water to be reabsorbed from the distal convoluted tubule and the collecting duct into the region of high solute concentration in the medulla. § This produces a smaller volume of more concentrated urine. If the blood has a high water potential (less concentrated), it is detected and less ADH is secreted by the pituitary. This decrease in the amount of ADH in the bloodstream result in the following: § The distil convoluted tubule and the collecting duct becomes less permeable to water. § Less water is reabsorbed into the medulla.
...ed that the liver was able to detoxify sulfate properly. The last inorganic constituent tested was calcium, which was done by adding equal amounts of urine and Sulkowitch’s reagent. A large amount of white precipitate was form due to the dietary consumption of the subject which can be that milk was consumed daily. Finally, the last tested was the abnormal constituents of urine. When testing for glucose the results were negative because the reagent was not reduced meaning that it did not turned greenish or red-brown color. The presence of glucose indicates diabetes mellitus which is a metabolic disorder that is caused by the usage of defective carbohydrate. Then when testing for albumin and globulin the results showed that a large amount of protein was present, which means that the subject had an abnormal leakiness or severe damage of the glomerular membrane or both.