We’re back for the second annual NephMadness Pod Crawl! Join us as our guest, Dr. AC Gomez, walks us through the life of the bean. We cover chronic kidney disease, medications to prevent complications, and how to successfully transition from pediatric to adult care. Don’t forget to check out the other podcasts in the pod crawl, featuring topics like IgA nephropathy, transgender health in CKD, and thrombotic microangiopathy. 8 podcasts. 8 regions. 1 Winner. Will it be you? Fill out your brackets today for NephMadness 2023
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Alport Syndrome is a genetic disorder of type IV collagen, which makes up the basement membrane of the glomerulus. The job of the basement membrane is to keep red blood cells and proteins out of the urine. Depending on the trimer of type IV collagen that is missing, the basement membrane will generally be thin. The thin membrane will degrade over time, allowing cells to pass freely. Although classically thought of as an X-linked disorder because the gene for collagen 4A5 is found on the X chromosome, Alport Syndrome can also be autosomal recessive due to mutations in collagen 4A3 and 4A4 found on chromosome 2. As a result, Alport Syndrome can be a spectrum of disease, ranging from microscopic hematuria to end stage renal disease based on the primary mutation.
Type IV collagen is also found in other organs, including the eyes (cornea, lens, and retina), ears, and uterus. Patients with Alport Syndrome can also develop sensorineural hearing loss, vision loss, protrusion of the lens, anterior lenticonus, or delayed healing of corneal ulcerations.
Dr. Gomez recommends screening all patients with a family history of Alport syndrome for hematuria and proteinuria with a urinalysis. Some providers will jump directly to genetic testing, however this is provider dependent.
Diagnosis is made by either confirmatory genetic testing or kidney biopsy. If pursuing genetic testing, Dr. Gomez always recommends a discussion with a genetic counselor first because a diagnosis of asymptomatic Alport Syndrome may alter a patient’s ability to obtain certain types of insurance, including life or disability.
Dr. Gomez recommends ACE Inhibitors for patients older than 2, regardless of their symptoms. ACE inhibitors in patients with Alport Syndrome have been shown to slow progression to kidney failure in patients with albuminuria (Gross et al, 2012). Although underpowered, ACE inhibitors are also likely to slow progression to albuminuria for patients with microscopic hematuria (Gross et al, 2020). With little downside, the trend is to use this medication to delay progression of disease. For those with proteinuria, the ACE inhibitor is titrated to the proteinuria itself. For those without, Dr. Gomez will start the ACE inhibitor at a well tolerated dose by weight and leave it.
Chronic Kidney Disease (CKD) is defined as “abnormalities of kidney structure or function, present for ≥ 3 months, with implications for health” (KDIGO 2012). This holds true for children and adults.
CKD is staged by glomerular filtration rate (GFR) for adults and children age ≥ 2. Stage I CKD is a GFR ≥90ml/min with evidence of structural abnormality. Stage II is a GFR of 60-89ml/min. Stage III is a GFR 30-59ml/min (and this is further divided into IIIa which is 45-59ml/min and IIIb which is 30-44ml/min). Stage IV is a GFR 15-29ml/min. Stage V is a GFR < 15ml/min or on renal replacement therapy.
For example, Alport Syndrome with a GFR ≥ 90ml/min is considered CKD stage I due to the structural abnormalities in the baseline membrane.
The frequency of lab monitoring depends on the stage of CKD. Dr. Gomez recommends the following algorithm:
Cystatin C can also be used to calculate GFR, especially in patients with abnormal muscle mass for age (either very high or very low). Dr. Gomez recommends interpreting it with caution, especially in any acute illness. However, it can be useful to trend, similar to creatinine.
The kidney is responsible for volume management, electrolyte regulation, acid buffering, bone health, and red blood cell production. Any of these processes could fail with CKD and medications are used to support the kidney’s function. Dr. Gomez recommends each of the following medications depending on certain parameters:
Lastly, children with CKD are at high risk of growth failure due a multitude of factors, including chronic inflammation, vitamin D/calcium dysregulation, acidemia, and growth hormone resistance. There isn’t an overall specific diet, as some children require certain electrolyte restrictions based on their disease process, however Dr. Gomez recommends the same nutritious varied diet as she recommends to all growing children. Dr. Gomez does not recommend protein modifications.
Which of our favorite medications in pediatrics are safe for patients with CKD? Most are, but don’t forget to renally dose any medications you may be prescribing.
The goal of closely monitoring and treating chronic kidney disease is to prevent progression to end stage renal disease (ESRD). Unfortunately, there is a strong relationship between pediatric CKD and adult ESRD. Not only are children with CKD more than 4 times as likely to develop ESRD, but there is also associated with a younger age of onset (NEJM, 2020). The goal of transitioning care from a pediatric to adult nephrologist is to prevent loss of monitoring and treatment, and ultimately prevent the progression to ESRD.
Dr. Gomez brings up many access barriers to transitioning care, including transition to community providers from academic settings, multiple doctors and specialists with unclear locations, changes in insurance coverage, and fewer wrap-around resources in adult medicine. In addition, this is often a time of transition in our patients’ personal lives. They may be moving out of state, moving out of the house, transitioning to a new school or job, or even working through guardianship issues.
Health disparities are often magnified in this context. With changes in insurance comes the problem of inequitable access to the adult providers our patients require. For others without transportation, transitioning to a new healthcare provider is impossible. In addition, Dr. Gomez points out patients with chronic disease may have a harder time finding employment, making it harder to take time off from work to attend appointments. Lastly, Dr. Gomez points out that trust can factor in here. Due to a combination of significant historical injustices and ongoing interactions with our healthcare system, many patients, especially minority populations, have a harder time finding a physician they can trust.
Although transitions are difficult, they can be done. Dr. Gomez points out the transition process should start as early as ages 12-14, when patients can learn to understand what it means to have chronic kidney disease, which medications they are on, and why lifelong follow up will be important. Using the Six Core Elements (gottransition.org) for transitioning, providers can help transition their patients from pediatric to adult providers. Check out the Implementation Guide on GotTransition.org to learn more!
For patients with CKD, primary care pediatricians are just as important to transitioning, if not more so. The PCP can assess the patient and family’s readiness for transition. In addition, as the quarterback for patient care, they can determine who will oversee the transition process and identify which pieces of information have successfully been communicated.
Listeners will learn the pathophysiology, management, and monitoring of Alport Syndrome as an example of chronic kidney disease, and how best to transition from a pediatric to adult provider for a lifelong disease.
After listening to this episode listeners will…
Dr Gomez reports no relevant financial disclosures. The Cribsiders report no relevant financial disclosures.
Masur S, Gomez AC, Chiu C, Berk J. “#80: NephMadness 2023: CKD and Transitions of Care”. The Cribsiders Pediatric Podcast. https:/www.thecribsiders.com/ March 15, 2023.
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