Alport Syndrome

First signs and symptoms of Alport Syndrome

We asked people what signs and symptoms they had before their diagnosis of Alport Syndrome. Some described experiencing a series of different symptoms leading up to diagnosis. Other people had no or few visible symptoms. Richard Y was in his early 20s and suddenly discovered very visible blood in his urine whilst at work which led to a diagnosis of Alport Syndrome. Mariam began to get hearing problems when she was a child. Dee says looking back before her diagnosis, she was often very tired and had no energy.

As Alport Syndrome is usually hereditary, some people had family members with Alport Syndrome and were diagnosed at an early age without necessarily having any symptoms (see also: Getting a diagnosis of Alport Syndrome and What is Alport Syndrome?). Both Patrick and Kevin said they had Alport Syndrome for as long as they can remember. Kevin’s older brother was diagnosed with Alport Syndrome before him and Paul was diagnosed at birth as his brother had been diagnosed aged 4. Some people were diagnosed with nephritis (inflammation of the kidneys) or benign haematuria (blood in the urine) in their families or were aware of a family history of kidney disease or inflammation of the kidneys, even though this might not have been diagnosed as Alport Syndrome. Some people like Karen suspected they had Alport Syndrome in the family but this was not confirmed until genetic testing later on.
Some people like Lucy were the first in their family to be diagnosed with Alport Syndrome (sometimes called ‘spontaneous’ Alport Syndrome). This sometimes led to other family members being tested and diagnosed. 

Although experiences varied, nearly all the people we talked to said one of the first signs or symptoms was blood and/or protein in their urine. Sometimes this was picked up whilst visiting the GP for something routine or unrelated. Lucy went to her GP for reflux when she was little and it was then that protein was discovered in her urine. Sarah was having a check-up for being underweight when doctors discovered blood and protein in her urine. Jayne and her sister had blood and protein in their urine but had no other symptoms and were given a “blanket diagnosis of nephritis”. It wasn’t until Jayne’s son had hearing problems that she found out she had Alport Syndrome.
Some of the women we spoke to said that problems were only picked up in pregnancy:
For some, the presence of blood in the urine was very visible:
People also recalled that they or their children had nappy “staining” (blood in the urine or haematuria) as a baby which then led to further checks. Urinary and kidney infections were also talked about. Many people recall frequent blood tests as a child and going to the hospital for regular check-ups (see also Getting a diagnosis of Alport Syndrome).
Other symptoms people described experiencing before diagnosis included a “metallic taste in the mouth”, “leg cramps”, “not sleeping properly”, “nausea and vomiting”, “itchy skin”, “not much energy” and “tiredness”. It is unclear if these were signs or symptoms caused by Alport Syndrome or whether these were unrelated. For a few people, a definite diagnosis came about when they became ill with something else.
Some people talked about experiencing kidney function “dropping” or getting “worse” or “deteriorating” over the years. Sometimes this was when they already had a diagnosis of Alport Syndrome. This was often after blood and protein had been discovered in their urine. Not everyone had a diagnosis of Alport Syndrome at this time and so sometimes renal failure was a sign which led to a diagnosis:
Hearing loss was experienced by both the men and women we talked to. The loss of hearing and experiencing deafness was frequently talked about. This was sometimes the very first sign or symptom which led to a diagnosis of Alport Syndrome (see also: Alport Syndrome - dealing with hearing loss).For Jayne, it was her son’s hearing loss which led to a definite diagnosis of Alport Syndrome in her family. Sometimes hearing loss happened later on after a diagnosis of Alport Syndrome. However, several people, like Steve and Richard, haven’t experienced any hearing loss.


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