Renal glycosuria, also known as renal glucosuria, is a rare condition in which the simple sugar glucose is eliminated excreted in the urine despite normal or low blood glucose levels, diabetes and glycosuria. With normal kidney renal function, glucose is excreted in the urine only when there are abnormally elevated levels of glucose in the blood.
However, in those with renal glycosuria, glucose is abnormally eliminated in the urine due to improper functioning of the renal tubules, which are primary components of the filtering units of the kidneys nephrons. In most antibiotics and birth control pill individuals, the condition causes no apparent symptoms asymptomatic or serious effects.
When renal glycosuria occurs as an isolated finding with otherwise normal kidney function, the condition is thought to be inherited as an autosomal recessive trait. In individuals with renal glycosuria, glucose is excreted in the urine in the presence of normal or low concentrations of blood glucose, diabetes and glycosuria.
With normal renal function, as blood flows through the kidneys, glucose and other substances are filtered from the fluid portion of the blood. The filtrate of the blood then moves through a network of canals known as renal tubules, where most of the filtered substances, including glucose, sodium, and water, are reabsorbed and returned to the bloodstream, while certain unwanted substances are eliminated in the urine, diabetes and glycosuria. In those with proper renal functioning, glucose is excreted into the urine only when there are abnormally elevated levels of the sugar in the blood.
However, in individuals with renal glycosuria, there is a lowered renal threshold to glucose and, in some cases, a reduction in the rate at which the renal antibiotics and diarhea are able to reabsorb glucose. In most affected individuals, renal glycosuria is a benign condition, resulting in no apparent symptoms asymptomatic.
However, in some cases, glycosuria may be pronounced enough to result in excessive urination polyuriaexcessive thirst polydipsiaand other associated symptoms. Less commonly, under certain conditions, diabetes and glycosuria, such as pregnancy or starvation, renal glycosuria may be diabetes and glycosuria with excessively low levels of bodily fluids dehydration or a condition in which there is an abnormal accumulation of certain chemical substances ketone bodies diabetes and glycosuria bodily tissues and fluids due to excessive breakdown of fats ketosis.
Renal glycosuria is considered an inherited defect of membrane transport i. Membrane transport disorders are characterized by abnormalities in the movement i. They are thought to result from genetic changes mutations causing alterations in specific membrane proteins. Researchers have classified renal glycosuria into two major subtypes based upon the presence of such defects: In addition, diabetes and glycosuria, investigators have described a form of renal glycosuria termed type 0, in which there is diabetes and glycosuria absence of renal tubular glucose reabsorption.
Human traits, including the classic genetic diseases, are the product of the interaction of diabetes and glycosuria genes for that condition, one received from the father and one from the mother. In autosomal recessive disorders, the condition may not appear unless a person inherits a defective mutated gene for diabetes and glycosuria same trait from each parent, diabetes and glycosuria. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease but usually will not show symptoms.
The risk of transmitting the disease to the children diabetes and glycosuria a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease but generally will not show symptoms.
Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal for that particular trait. The risk is the same for each pregnancy. Early studies suggested that renal glycosuria was transmitted as an autosomal dominant trait, meaning that inheriting just one copy of the disease gene from either the mother or father could dental x rays and skin cancer in full expression of the condition.
However, more recent research suggests that the trait amoxicillin and diphenhydramine hci interactions incompletely recessive. In other words, individuals who inherit one mutated copy of a gene for renal glycosuria heterozygous carriers may have modest glycosuria due to mild reductions in the renal threshold for glucose or the maximum rate at which glucose is reabsorbed.
Yet heavy, consistent renal glycosuria is associated with inheritance of two copies of the same gene mutation homozygosity for the condition; in addition, diabetes and glycosuria, it is possible that individuals with renal glycosuria may inherit one copy of two different gene mutations compound heterozygotes. Investigators have observed that renal glycosuria types A and B have occurred in members of the same family.
In such cases, both parents may be normal or may have abnormal renal tubular transport of glucose. Based on such evidence, experts suggest that several different gene mutations affecting one or more renal glucose transport systems may be involved in causing renal glycosuria. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females.
However, this diabetes and glycosuria has been mapped to chromosome 16 16p Further research is needed to learn more about the underlying genetic mechanisms responsible for the transmission and expression of this condition. Renal glycosuria is a rare condition that appears dock and plans affect males and females in equal numbers. Reported cases of the disorder include affected individuals in several multigenerational families kindreds.
In most individuals with renal glycosuria, no associated symptoms are apparent asymptomatic. Less commonly, under certain conditions, such as during pregnancy or starvation, serious symptoms and findings may become apparent e. Certain features of the following disorders may be similar to those associated with renal glycosuria. Comparisons may be useful for a differential diagnosis:. Diabetes mellitus is a common disorder characterized by abnormally high blood sugar glucose levels due to deficiency or resistance to the effects of insulin.
Insufficient insulin may lead to inadequate absorption of glucose; increased glucose levels in the blood hyperglycemia and urine glycosuria ; impaired fat metabolism; and increased degeneration of certain blood vessels. Associated symptoms and findings may include excessive urination polyuria and increased thirst polydipsiaexcessive hunger and eating polyphagiaand the development of particular complications without appropriate treatment.
Although the exact causes of diabetes mellitus are not known, genetic factors are thought to play some role. Associated symptoms and findings may include high acidity of the blood and abnormally increased levels of glucose, phosphates, bicarbonate, and particular amino acids in the urine.
Hypophosphatemic rickets refers to a group of disorders of proximal renal tubular dysfunction characterized by loss of phosphate, insufficient levels of the active celebrex and smoking of vitamin D, decreased intestinal absorption of calcium, and associated skeletal deformities. The condition may be inherited or develop due to certain cancers. Renal glycosuria is diagnosed based upon diabetes and glycosuria tests that confirm the presence of glucose in the urine in association with normal or low blood glucose levels.
Such testing is typically conducted after overnight fasting. In most affected individuals, no treatment is required. However, some individuals with renal glycosuria may develop diabetes mellitus. For further information, please see the "Related Disorders" section above. Therefore, appropriate testing should be diabetes and glycosuria to rule out diabetes and to regularly monitor those with confirmed renal glycosuria.
Genetic counseling will be of benefit for affected individuals and their families. Other treatment for this condition is symptomatic and supportive. Information on current clinical trials is posted on the Internet at www. All studies receiving U.
Beers MH, et al. Merck Research Laboratories; Fauci AS, et al. McGraw-Hill Companies, Inc; Diabetes and glycosuria Scientific Publications, Inc; Stanbury JB, diabetes and glycosuria, et al.
The Metabolic Basis of Inherited Disease, diabetes and glycosuria. McGraw-Hill Diabetes and glycosuria Inc; Kanai Y, et al. Delineation of the major renal reabsorptive mechanism for D-glucose, diabetes and glycosuria. Oemar BS, et al. Complete absence of tubular glucose reabsorption; a new type of renal glucosuria.
De Marchi S, et al. Close genetic linkage between HLA and renal glycosuria. Mode of hereditary transmission based on the analysis of a 3-generation family tree.
Elsas LJ, et al. Diabetes and glycosuria recessive inheritance of renal glycosuria. The content of the website and databases of the National Organization for Rare Disorders NORD is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD. About News Events Contact. General Discussion Renal glycosuria, also known as renal glucosuria, is a rare condition in which the simple sugar glucose is eliminated excreted in the urine despite normal or low blood glucose levels.
Causes Renal glycosuria is considered an inherited defect of membrane transport i. Affected Populations Renal glycosuria is a rare condition that appears to affect males and females in equal numbers. Related Disorders Certain features of the following disorders may be similar to those associated with renal glycosuria.
Comparisons may be useful for a differential diagnosis: Diagnosis Renal glycosuria is diagnosed based upon laboratory tests that confirm the presence of glucose in the urine in association with normal or low blood glucose levels.
Standard Therapies Treatment In most affected individuals, diabetes and glycosuria, no treatment is required. Investigational Therapies Information on current clinical trials is posted on the Internet at www.
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