Janine Reed is a retired Registered Nurse; prior to retirement, she supervised the inpatient and acute dialysis services in Munson Medical Center in Michigan. In 1974, she was diagnosed with Alport syndrome. Through her work with the NKF Advocacy Committee and as a board member for Alport System Foundation, her focus is to promote earlier diagnosis through provider and patient education and to support legislation that would allow implementation of strategies to delay progression of CKD.
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Alport syndrome is a rare disease named in 1961 for A.C. Alport, MD, who observed nephritis and hearing loss in a multigenerational British family in 1927. It is a Type IV collagen mutation that affects the structure and function of kidneys, cochlea, and eyes. Patients present with chronic persistent hematuria and proteinuria, high frequency sensorineural hearing loss, possibly tinnitus, and they may have anterior lenticonus and dot and fleck retinopathy.
There are three most commonly studied forms of Alport syndrome: X-Linked affecting roughly 80% of those with Alport syndrome, autosomal recessive, and autosomal dominant, each with a somewhat different inheritance pattern. Clinical Practice Recommendations describe best practice treatment with angiotensin-converting enzyme ACE or angiotensin receptor blocker ARB to delay the progression of declining kidney function by decreasing the patient’s proteinuria. Roughly 30,000-60,00 individuals in the United States are living with Alport syndrome, but 2019 research suggests that when genetic testing is done, this number may be far higher.
Alport syndrome manifests differently within family groups depending on variants in the Type IV collagen mutation. Some families experience early childhood symptoms including hematuria and significant hearing loss. My experience was different. I grew up aware that my mother had chronic hematuria which had been explained by a urologist as being caused by a leaking capillary hemangioma in her bladder. I also knew that both of her brothers had died of kidney failure in their late 40s before dialysis was available: one uncle supposedly as a result of childhood scarlet fever causing renal scarring, and the other uncle from long-term kidney trauma due to driving heavy equipment.
As I went through nursing school, these explanations did not seem plausible. I graduated from nursing school in 1974 and was found to have hematuria and proteinuria at the time of my post-school physical and again a month later at my pre-employment physical. I was referred to a nephrologist who diagnosed me with Alport syndrome based on my symptoms and family history. He identified, as was the understanding at the time, that I was a “carrier” and my disease would not progress. My kidney function and hearing was monitored from time to time over the years showing only slow progression, even with four successful pregnancies (although I had preeclampsia with the last two and an increase in proteinuria that did not return to pre-pregnancy levels).
As a Registered Nurse, I initially worked in critical care but within a few years was recruited to work as a dialysis nurse. Being closer to the field of nephrology practice and literature, I began reading more current research about Alport syndrome and had the opportunity to hear a nephrologist from the University of Michigan speak on the issue of genetic counseling for those with inherited kidney disease. I was struck by the fact that my own medical pedigree was stronger than any he had presented.
In 1989, my daughter was identified with chronic hematuria. Even in the 1980s, women were still considered carriers so there was no proposed treatment plan for either one of us. In 2012, I began seeing a nephrologist who recommended that I have a skin biopsy to confirm the Alport diagnosis, which it did. Two years later, I began participating in the Athena Study sponsored by Regulus which was a 2 ½ year observational study of those with Alport syndrome. The study included genotyping which again confirmed X-Linked Alport syndrome.
Our family is fortunate as Alport syndrome for us has a later onset than for many. Today, I am in Stage 3 CKD, my hearing loss requires hearing aids, and my optometrist monitors my dot and fleck retinopathy. I maintain a very low-protein and sodium-restricted diet, I take an ACE, and never use NSAIDS. I worry about my family members who are also affected. As a nurse who has kidney disease, I use this as a springboard to continue my involvement in political advocacy at a national level. I serve on the Alport Syndrome Foundation Board of Directors and participate as a co-administrator in our Alport Syndrome Foundation Support Group on Facebook.
Other members of my family have not had the benefit of today’s science but during a simple moment of genealogy research, we identified another generation of likely Alport syndrome. Bright’s disease refers to a disorder of the kidneys caused by protein in the urine. It was named for Richard Bright, a pioneer in kidney disease research who first published his findings in 1827. It was listed as the cause of death for poet Emily Dickinson, author H.P. Lovecraft, and former U.S. president Chester A. Arthur. The term “Bright’s disease” is most often found today by people researching their genealogy. My great-uncle died in 1915 at the age of 47 from a gunshot wound. In his obituary, we read that he was “also known to have suffered from Bright’s Disease.”
– Guest Post written by Janine Reed
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