Sign-in to Ask A Doctor - 24x7
OR
Sign in with GoogleGet your health question answered instantly from our pool of 18000+ doctors from over 80 specialties
What Causes Hearing Loss And Kidney Failure As No History Nor In The Family?
i am 17 years old male from india. i presented with genu valgum, hearing loss and kidney failure which was detected 8 months back but is on hemodialysis since last 1 year. i also had visual difficulty. i had two brothers one of which is my twin brother and other 1 year older to me who is also on dialysis since last 5 months and they also had visual and hearing problem but no bony deformity. my audiometry revealed sensorineural hearing loss..no other member in my family has kidney disease.. urinalysis of my parents is normal with normal renal function...their marriage was non consanguinous... i had no biopsy done and doctors are suspecting autosomal recessive alports or cystinosis..or sporadic mutation in mother... what do you think my diagnosis to be and how to approach my diagnosis...doctors told that my kidney is small.. my urinaysis revealed hematuria and proteinuria.. i have no history of recurrent UTI... if diagnosed as alports can a healthy carrier alports patient with normal renal function and no proteinuria donate the kidney to me... i am 150 cm and weight is 40 kg....please advise...
Thu, 28 May 2020
Hi,
Hearing loss along with renal failure and rickets(suggested by knee deformity) can happen in condition like cystinosis, alport syndrome and RTA(renal tubular acidosis). These are inherited conditions but can happen without family history also(from new mutations occurring in parents).
The diagnosis needs some investigations(like urine pH, blood gas analysis, electrolytes). Some cases may need renal biopsy and genetic testing also.
Healthy carrier of the same disease is not preferred as a donor for transplantation, as an accidental second mutation can have the same fate in new kidney also.
Anyhow, this needs more comprehensive assessment including the genetic abnormality and its pattern of inheritance. Your doctor will guide you.
Hope I have answered your query. Let me know if I can assist you further.
Take care
Regards,
Dr. Muhammed Aslam TK
Hearing loss along with renal failure and rickets(suggested by knee deformity) can happen in condition like cystinosis, alport syndrome and RTA(renal tubular acidosis). These are inherited conditions but can happen without family history also(from new mutations occurring in parents).
The diagnosis needs some investigations(like urine pH, blood gas analysis, electrolytes). Some cases may need renal biopsy and genetic testing also.
Healthy carrier of the same disease is not preferred as a donor for transplantation, as an accidental second mutation can have the same fate in new kidney also.
Anyhow, this needs more comprehensive assessment including the genetic abnormality and its pattern of inheritance. Your doctor will guide you.
Hope I have answered your query. Let me know if I can assist you further.
Take care
Regards,
Dr. Muhammed Aslam TK
I find this answer helpful
Disclaimer: These answers are for your information only and not intended to replace your relationship with your treating physician.
This is a short, free answer.
For a more detailed, immediate answer, try our premium service
[Sample answer]
Related questions you may be interested in
Recent questions on Renal dialysis
Loading Online Doctors....