Dent Disease Discussion

Dent syndrome is a kidney disease that is rare, chronic, and hereditary. Males are most affected, but females are occasionally affected as well (Genetics Home Reference). It is characterized by typical protein spillage and elevated calcium levels in the urine. Chronic kidney disease, nephrocalcinosis (kidney calcification), and nephrolithiasis are also distinguishing factors (kidney stones). Its symptoms appear mainly in childhood, but some sporadic cases may also occur in adulthood. If left untreated, the condition will progress to end-stage renal failure. Furthermore, Dent disease is divided into two kinds. Type 1 and Type 2 Dent are both genetic disorders of two genes, CLCN5 and OCRL1 respectively (Lieske et al. 6). This working paper, nonetheless, presents the effects of Dent disease to the body and the possible treatments. It is essential to consider the population affected. According to Lieske et al. (7), the prevalence of the disorder is not clearly known. However, Dent Type 1 has been reported in at least 250 families in the U.S. (Lieske et al. 7). Its causes are hereditary factors. Dent Type 2 has been evidenced in about 25 people, a small proportion due to the limited misdiagnosis.

Effects of Dent Disease to the Body

People affected by the illness develop rickets, due to low levels of calcium and vitamin D in the blood. Dent, as such, weakens the bones, bows the legs or even leads to difficulty and delayed walking. In young boys, additionally, the effect may be severe, thereby causing excessive pain in the bones. As well, due to the occurrence of proteins in the urine, kidney stones may block the urinary canal, hence causing pain during urination. The pain is typically known as renal colic and happens in recurring waves from the back to the groin in a repeating cycle. After a prolonged duration, preferably 40 years, the kidneys may stop or malfunction.

According to Lieske et al. (9), patients with Type 2 dent may have reduced growth rates and mild learning difficulties. In infants, furthermore, it has injurious effects by weakening the muscles. If not realized, therefore, the disease may cause limb failure in babies. Lastly, patients with Dent disease tend to be at a higher risk of oral diseases. They may develop gum diseases, dry mouth, and inflammation of the salivary glands (Ludwig et al. 1338). Moreover, in some cases, bad breath is associated with it due to excessive excretion of putrid.

Possible Treatment

The treatment of Dent disease is based on the identification of its symptoms. As such, to determine the best approach, an evaluation of the patient genetic history can be done through a coordinated effort of specialists (NORD). Clinical tests can also be conducted to determine the diagnosis process. Conversely, due to the rarity of the disorder, it is significant to comprehend that there are no specific treatments for Dent disease. However, owing to the limited occurrences of the disease, specialists suggest medications such as the use of thiazides. It is a single case treatment obtained from a small series of patients.

Thiazides lower the presence of calcium in the urine and the recurrence of kidney stones. Essentially, therefore, such treatment strategy may be regarded as a preventive measure. Additional treatments include angiotensin-converting enzymes and angiotensin receptor blockers (Lieske et al. 7). The medications slow down kidney malfunction and, in some cases, prevent the occurrence of kidney stones. Nonetheless, some sources suggest that such intervention is unclear as long as Dent disease is involved. According to (Ludwig et al. 1338), administration of vitamin D can treat Dent disease. However, the intervention should be done cautiously, since excessive use of vitamin D can increase the levels of calcium in the blood. It may worsen the Dent disorder rather than curing it. Finally, citrate supplements and citrate diets can treat the disease (Lieske et al. 7-8). According to the study, the supplements may slow down the progression of kidney disorders.

Works Cited

Dent Disease – NORD (National Organization for Rare Disorders). NORD (National Organization for Rare Disorders), 2014, Accessed 30 April, 2017.

Genetics Home Reference. Dent Disease. (1st ed.). Rockville Pike, Bethesda, NIH, 2017, Accessed 30 April, 2017.

Lieske, John C., Lada Beara Lasic, and Sandro Rossetti. Dent Disease. (1st ed.). Research Gate, 2017, Accessed 30 April, 2017.

Ludwig, Michael, Elena Levtchenko, and Arend Bökenkamp. “Clinical Utility Gene Card For: Dent Disease (Dent-1 and Dent-2).” European Journal of Human Genetics, Vol. 22, no. 11, 2014, pp. 1338-1338. Springer Nature, doi:10.1038/ejhg.2014.33.

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