Standard of Care Treatment: Managing NPHP

While there is currently no cure for Nephronophthisis (NPHP), the standard of care is focused on two main goals: managing the symptoms of chronic kidney disease (CKD) to keep your child feeling well and preparing for a successful kidney transplant ^[1][2].

Managing Symptoms and Complications

Because the kidneys in NPHP cannot concentrate urine or balance minerals effectively, treatment involves addressing several specific areas of health.

Fluid and Salt Balance

One of the most important aspects of NPHP care is managing “salt-wasting” ^[1][3]. Because the kidneys lose too much salt and water, children with NPHP are at high risk for dehydration.

• Hydration: Your child will likely be encouraged to drink plenty of fluids throughout the day ^[4].
• Salt Supplements: Some children may need extra salt in their diet or through supplements to replace what is lost in their urine ^[3].

CRITICAL SAFETY WARNING: Salt supplementation is only appropriate during the “salt-wasting” phase of the disease. In late-stage kidney failure, the kidneys often stop wasting salt and begin retaining it. At this stage, extra salt can cause dangerous fluid overload and high blood pressure. Salt intake must be strictly guided and continuously adjusted by your nephrologist.

Treating Anemia

As kidney function declines, the body produces less erythropoietin, a hormone needed to make red blood cells ^[5]. This leads to anemia, which causes fatigue and weakness.

• Medications: Doctors may prescribe synthetic erythropoietin injections or iron supplements to help boost red blood cell levels ^[6][5].

Supporting Growth

Kidney disease can interfere with a child’s natural growth ^[7]. To help children reach their full height potential, the following may be recommended:

• Nutrition: A specialized diet to ensure they get enough calories and the right balance of minerals ^[2].
• Growth Hormone: In some cases, recombinant human growth hormone (rhGH) therapy is used to treat growth retardation in children with CKD ^[8][9].

Blood Pressure and Acid Balance

• Hypertension: While many children with NPHP have normal blood pressure early on, it must be monitored and treated if it becomes high to prevent further kidney damage ^[7][2].
• Metabolic Acidosis: The kidneys help keep the blood from becoming too acidic. If this balance shifts, doctors may prescribe “bicarbonate” (a type of salt) to neutralize the acid ^[2].

The Path to Transplant

NPHP almost invariably progresses to End-Stage Renal Disease (ESRD), which is the point where the kidneys can no longer support the body ^[10][11]. At this stage, a kidney transplant is the preferred treatment ^[12].

Pre-emptive Transplantation

Whenever possible, medical teams aim for a pre-emptive transplant—a transplant that occurs before the child ever needs to start dialysis ^[12]. This is often considered the “gold standard” for children because it avoids the physical strain and lifestyle disruptions of dialysis.

Transplant Success and Recurrence

The long-term outlook for children with NPHP after a transplant is very positive ^[12].

• High Success Rates: Research shows that children with NPHP generally have excellent outcomes and high graft (new kidney) survival rates ^[12].
• Zero Recurrence: A major benefit for NPHP patients is that the disease does not return in the new kidney ^[13]. This is especially true for the most common form, NPHP1-related disease, where the risk of recurrence is considered minimal to none ^[13].

IMPORTANT: A kidney transplant only cures the renal aspect of the disease. It does NOT halt the progression of systemic issues, such as vision loss from Senior-Løken syndrome. Multi-system monitoring must continue after the transplant.

By focusing on careful symptom management during the CKD stage, families can help ensure their child is in the best possible health when it comes time for their transplant ^[14].