Autosomal Recessive Distal Renal Tubular Acidosis with Deafness

Autosomal Recessive Distal Renal Tubular Acidosis with Deafness

Article
Kidney & Bladder Health
Diseases & Conditions
+1
Contributed byMaulik P. Purohit MD MPHApr 02, 2018

The topic Autosomal Recessive Distal Renal Tubular Acidosis with Deafness you are seeking is a synonym, or alternative name, or is closely related to the medical condition Renal Tubular Acidosis with Deafness.

Quick Summary:

  • Renal Tubular Acidosis with Deafness is a rare and genetic disorder that is characterized by dysfunction of the kidneys and hearing problems
  • It is reported to occur more commonly in regions where children are born to parents who are close relatives (such as first cousins)
  • Renal Tubular Acidosis with Deafness is caused by genetic mutations, which results in impaired functioning of the kidneys and ears, due to a defective enzyme
  • The major symptoms of Renal Tubular Acidosis with Deafness are nausea, vomiting, dehydration, softening of bones, formation of kidney stones, hearing impairment (known as sensorineural hearing loss, beginning in childhood or young adulthood), and short stature
  • For diagnosis of Renal Tubular Acidosis with Deafness, a healthcare professional may use information from clinical findings, urine tests, blood tests and imaging. The disorder is confirmed using genetic tests
  • Some complications of Renal Tubular Acidosis with Deafness may include a drop in the potassium levels in blood (hypokalemia) leading to extreme muscle weakness, chronic kidney problems, continued hearing loss, and abnormal heart rhythms
  • Oral alkali treatment to combat acidic blood is the main method for combating the condition and reversing the effects of acidosis. Additionally, potassium supplements along with medicines to prevent or treat kidney stones, treatment for hearing loss, and pain medication for bone pain may be required
  • Since Renal Tubular Acidosis with Deafness is a genetic condition, there are no available methods or guidelines to prevent it. However, if there is a family history of the disorder, genetic counselling may help the prospective parents understand the probability and risks of their child being born with the disorder
  • The prognosis of Renal Tubular Acidosis with Deafness is considered to be excellent with early diagnosis, followed by prompt and continued treatment. Nonetheless, hearing loss might continue to occur in many individuals and eventually deafness may occur. The prognosis also depends upon the severity of the signs and symptoms; individuals with mild signs and symptoms have better prognosis than those with severe signs and symptoms

Please find comprehensive information on Renal Tubular Acidosis with Deafness regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Maulik P. Purohit MD MPH picture
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Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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