Protecting Kidney Health: Monitoring and Care

The “Renal” part of Branchio-Oto-Renal (BOR) syndrome refers to the kidneys, which are responsible for filtering waste and balancing fluids in the body. While not every child with this syndrome will have kidney issues, proactive monitoring is the most important step in protecting their long-term health ^[1][2].

Common Kidney Findings in BOR

Kidney involvement in BOR syndrome is heterogeneous, meaning it can vary significantly from one child to another—even between siblings with the same genetic mutation ^[3][4].

Common structural differences found on imaging include:

• Renal Hypodysplasia: This is the most common finding, where one or both kidneys are smaller than usual or did not develop fully ^[3][5].
• Hydronephrosis: A condition where the kidney becomes “stretched” because urine is not draining properly into the bladder ^[3][6].
• Renal Agenesis: Occasionally, a child may be born with only one kidney ^[5].
• Cystic Changes: The presence of small fluid-filled sacs within the kidney tissue ^[3].

A Proactive Monitoring Schedule

Because kidney issues can sometimes be “silent” (occurring without obvious symptoms), regular screening is essential ^[2]. While your doctor will create a personalized plan, standard monitoring typically involves an annual check-up that includes:

1. Baseline and Follow-up Ultrasounds: Every child with a BOR diagnosis should have a baseline renal ultrasound as soon as possible to check the size and shape of the kidneys, with follow-up scans scheduled yearly or as directed ^[5][3].
2. Blood Pressure Monitoring: High blood pressure can be both a cause and a sign of kidney stress ^[2].
3. Urine Tests (Proteinuria): Doctors check for proteinuria—the presence of protein in the urine—which is an early indicator that the kidneys’ filters are under strain ^[2][7].
4. Blood Tests (Creatinine): This test measures creatinine, a waste product. If creatinine levels rise, it suggests the kidneys are not filtering as efficiently as they should ^[2][1].

What to Watch For at Home

Between annual visits, parents should watch for physical signs that the kidneys are under stress. Contact your pediatrician if you notice:

• Puffiness or swelling (edema): Particularly around the eyes, hands, or ankles.
• Signs of a Urinary Tract Infection (UTI): Unexplained fevers, burning during urination, or strong-smelling urine.
• Changes in urination: Going much more or much less than usual.
• Extreme fatigue or lethargy: More than normal childhood tiredness.

Lifestyle and Diet Considerations

For most children with mild kidney anomalies, strict dietary restrictions are unnecessary. A standard healthy, low-sodium diet and drinking plenty of water is often enough to support kidney health ^[2].

If your child is older and has only one functioning kidney (renal agenesis) or significant dysplasia, your nephrologist may advise against high-impact contact sports (like football or rugby) to protect the kidneys from trauma ^[1]. Always discuss any dietary or lifestyle changes directly with your child’s care team.

Risk of Progression

For many children, kidney issues are mild and do not interfere with daily life ^[4]. However, some children may experience a decline in function over time, leading to Chronic Kidney Disease (CKD) ^[8]. In rare and more severe cases, this can progress to End-Stage Renal Disease (ESRD), where treatments like dialysis or a kidney transplant may be needed ^[8][9].

The Role of Genetics in Kidney Health

The specific gene involved in your child’s BOR syndrome can provide clues about their kidney health:

• EYA1 Mutations: These are more strongly associated with kidney anomalies. More than half of children with an EYA1 mutation may have some form of kidney involvement ^[3].
• SIX1 Mutations: Children with SIX1 mutations generally have a lower prevalence of kidney issues compared to those with EYA1 ^[10].

Regardless of the gene involved, the goal is “watchful waiting.” By catching any changes in kidney function early, your medical team can implement strategies—such as blood pressure medications—to protect the kidneys for as long as possible ^[2][11].