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Medical Essay on Alport Syndrome

5 pages
1254 words
Vanderbilt University
Type of paper: 
Case study
This essay has been submitted by a student. This is not an example of the work written by our professional essay writers.

Alport Syndrome is considered to be a disease that originates due to genetic problems and has an association with kidney diseases. The disease is not very common and therefore affects 0.00002 percent of the children fund within the population. Apart from the effect on the kidney, the condition can lead to eye loss or hearing difficulties. The effect on the kidney is of great interest given the important function of the liver in the body. Liver is bound to fail without proper collagen support, and this would translate into interference with all the kidney functions thus adversely affecting the human body.

Type IV collagen is the part of the body system that is affected by this syndrome. The defect in the collagen is inherited, and this leads to an inheritable defect in the normal functioning in the normal body parts due to the affected structural material. The kidney is affected mainly because it has high percentages of this type IV collagen. This applies to the ears and the eyes as well (Rosado et al., 2015).

The cause of the Alport syndrome is often genetic mutation of specific genes responsible for the formation of collagen. The origin of this syndrome is the mutation of COL4A4, COL4A3, and COL4A5. These are genes in humans that are also responsible for the formation of the basement membrane type iv that is used in the formation of collagen. The formation of type IV collagen is affected if any case of mutation occurs in the three genes responsible for its formation. In the case of the kidney, the genes are responsible for the formation of type IV collagen in the glomerulus. The glomerulus needs support from the basement membranes. The collagen exists in different isoforms thus different defects based on affected isoform. The mutation can either be in the form of addition or deletion of a gene. It can also be as a result of other chromosomal aberrations. The mutation of the collagen required in the glomerulus usually leads to persistence of fetal glomerulus collagen to adulthood. The mutation that results in Alport syndrome usually affects the alpha-3 and alpha-4 chains of the collagen leading to weakening of the collagen (Heidet & Gubler, 2016).

Kidney damage is a common phenomenon among the patients having the Alport disorder. This often leads to kidney failure, and the repercussions of such failure lead to severe consequences. The kidney losses its function and become incapable of filtering waste materials from the blood. The basement membrane damaged by the condition is responsible for support of the cells occurring in several tissues within the body. The kidney losses shape as more damage occurs with age and takes a scarring from which is often even scary to see. Basement membrane thickens in certain conditions due to the disease making the kidney to have a shape that is similar to a basket weave. Single computational analysis of molecules is a useful tool for the identification of the occurrence of the disease within the kidneys (Heidet & Gubler, 2016).

Rosado et al., (2015) claims that Alport syndrome occurs in the form of complex gene inheritance since it is associated with various genes in the body. Alport syndrome is inherited in the form of an X-linked gene, autosomal dominant gene or as an autosomal recessive gene. These forms affect people in different ways, and their clinical manifestations also vary. Unlike the X-linked form of the condition, the autosomal form has the same effect in both the male and the females regarding severity of the clinical manifestations. However, the X-linked form is more severe in the males since the females can act as carriers because they usually have two X chromosomes. On the contrary, the autosomal dominant form has the same effect on both genders just line the recessive form (Funk et al., 2017).

The Alport syndrome can be a genetically inheritable condition, or it can occur as an autosomal recessive condition in certain adults without a history of the condition. Alport syndrome can be identified in different stages in which family history makes an important technique for diagnosis. Adolescent and children with microscopic hematuria are often suspect of this condition. The first step in their diagnosis involves an analysis of the family history with the intentions of identifying cases of early deafness and insufficiency of the urine, especially among the male children. Presence of such clinical manifestations will be a sign of Alport syndrome if this condition is part of the family history. The autosomal recessive form of the Alport syndrome occurs in adults whose family history is negative for the condition even though they manifest with this clinical signs of the condition. The carriers in the case of the autosomal recessive condition would have mild clinical manifestations (Funk et al., 2017).

It is evident that any practicing medical practitioner should always consider family history as a topmost priority during the diagnosis process. The family history could be traced to both paternal and the maternal side to have a conclusive fact proving the existence of the syndrome. This would help in establishing the origin of the condition in the patient. It may also help in identifying whether the condition of the patient in question is X-linked or as a result of general chromosome mutations (Rosado et al., 2015).

According to Funk et al., (2017), some of the symptoms that can be used to identify the disease include renal conditions such as urinary infections and the change in the color of the urine. In other cases, kidney damage would result in increased blood pressure whereas other patients may experiencing swelling in either the feet or the hands or both hands and feets and sometime anasarca. Accumulation of waste products in the kidney and proteinuria are also important symptoms when the analysis is done using the kidney. In cases where the eyes are preferred it is important to consider the building of the eye lens, cataracts and any changes in vision.

Skin and kidney biopsy are important for the diagnosis of the Alport syndrome. Other diagnostic techniques of great relevance may include evaluation of the hearing and vision and the use of the renal ultrasound. All these techniques seek to establish that the condition of the patient is Alport syndrome after the clinician has done a careful study of the family history (Cosgrove & Liu, 2017).

In conclusion, Alport syndrome is an inheritable genetic condition with severe consequences on the membranes of the kidney, ears and the eyes. This means that infections with this condition often results in eye problems, hearing difficulty or renal problems in the body. These three body parts form the basis of its diagnosis in the human body. The effects on this body parts are mainly due to the mutation of the specific genes that are responsible for the formation of collagen in the identified body parts.


Cosgrove, D., & Liu, S. (2017). Collagen IV diseases: A focus on the glomerular basement membrane in Alport syndrome. Matrix Biology, 57, 45-54.

Funk, S. D., Bayer, R. H., Malone, A. F., McKee, K. K., Yurchenco, P. D., & Miner, J. H. (2017). Pathogenicity of a Human Laminin b2 Mutation Revealed in Models of Alport Syndrome. Journal of the American Society of Nephrology, ASN-2017090997.

Heidet, L., & Gubler, M. C. (2016). Alport syndrome: Hereditary nephropathy associated with mutations in genes coding for type IV collagen chains. Nephrology & therapeutic, 12(7), 544-551.

Rosado, C., Bueno, E., Felipe, C., Valverde, S., & Gonzalez-Sarmiento, R. (2015). Study of the true clinical progression of autosomal dominant Alport syndrome in a European population. Kidney and Blood Pressure Research, 40(4), 435-442.

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