My Baby Has Polycystic Kidney Disease (PKD)
Medically reviewed by Dr. Michael Okonkwo, MD, FAAP · Board-Certified Neonatologist
Content reviewed against published NIH, NIH, Children's Hospital guidelines
Last reviewed:
If your baby has been diagnosed with or you suspect has polycystic kidney disease (pkd), here is what the evidence says.
The short answer
Polycystic kidney disease (PKD) in children comes in two main forms. Autosomal recessive PKD (ARPKD) typically presents in infancy with greatly enlarged kidneys, hypertension, and liver fibrosis, and can cause respiratory distress at birth from the large kidneys compressing the lungs. Autosomal dominant PKD (ADPKD) is more common overall but usually does not cause symptoms until adulthood, though it can occasionally be detected prenatally or in childhood. Treatment focuses on managing symptoms, controlling blood pressure, and preserving kidney function for as long as possible.
Key takeaways
- Polycystic kidney disease (PKD) in children comes in two main forms. Autosomal recessive PKD (ARPKD) typically presents in infancy with greatly enlarged kidneys, hypertension, and liver fibrosis, and can cause respiratory distress at birth from the large kidneys compressing the lungs. Autosomal dominant PKD (ADPKD) is more common overall but usually does not cause symptoms until adulthood, though it can occasionally be detected prenatally or in childhood. Treatment focuses on managing symptoms, controlling blood pressure, and preserving kidney function for as long as possible.
- Usually normal when: Your child has been diagnosed with PKD and is being followed by pediatric nephrology
- Call your doctor if: Your newborn is having difficulty breathing, which may be caused by very large kidneys compressing the lungs
- Varies by age — see the age-by-age breakdown below
“Fever itself is not an illness — rather, it is a sign or symptom that the body is fighting an infection. Fever stimulates certain defenses, such as the white blood cells, which attack and destroy invading bacteria.”
Parents everywhere have the same worry. You are doing the right thing by looking into it.
What Parents Should Know
According to NIH, Children's Hospital guidelines, polycystic kidney disease (PKD) in children comes in two main forms. Autosomal recessive PKD (ARPKD) typically presents in infancy with greatly enlarged kidneys, hypertension, and liver fibrosis, and can cause respiratory distress at birth from the large kidneys compressing the lungs. Autosomal dominant PKD (ADPKD) is more common overall but usually does not cause symptoms until adulthood, though it can occasionally be detected prenatally or in childhood. Treatment focuses on managing symptoms, controlling blood pressure, and preserving kidney function for as long as possible. At Prenatal, pKD may be detected on prenatal ultrasound. ARPKD classically shows very large, bright (echogenic) kidneys bilaterally, sometimes with oligohydramnios (low amniotic fluid) in severe cases. ADPKD may show kidney cysts or enlargement but is less commonly detected prenatally. If severely enlarged kidneys are seen, you will be counseled about the possible diagnoses and prognosis. Genetic testing can help distinguish the type. Delivery should be planned at a center equipped to manage respiratory and renal complications. It is generally considered normal when your child has been diagnosed with PKD and is being followed by pediatric nephrology. However, you should contact your pediatrician promptly if your newborn is having difficulty breathing, which may be caused by very large kidneys compressing the lungs.
Normal vs. Concerning
When to Seek Immediate Care
- Your newborn is having difficulty breathing, which may be caused by very large kidneys compressing the lungs
- Your child has a high fever with back pain or foul-smelling urine, which could indicate a kidney infection
- Your child has blood in the urine (hematuria), especially if painful
- Your child shows signs of severe hypertension: headache, vomiting, visual changes, or seizures
- Your child has signs of worsening kidney function: decreased urine output, swelling, nausea, or fatigue
By Age
What to expect by age
Prenatal
PKD may be detected on prenatal ultrasound. ARPKD classically shows very large, bright (echogenic) kidneys bilaterally, sometimes with oligohydramnios (low amniotic fluid) in severe cases. ADPKD may show kidney cysts or enlargement but is less commonly detected prenatally. If severely enlarged kidneys are seen, you will be counseled about the possible diagnoses and prognosis. Genetic testing can help distinguish the type. Delivery should be planned at a center equipped to manage respiratory and renal complications.
0-1 month
Newborns with ARPKD may have very large kidneys that are palpable on exam. In severe cases, the large kidneys can compress the lungs, causing respiratory distress that requires ventilatory support. Blood pressure is monitored closely, as hypertension is common and may need treatment. Kidney function (creatinine, electrolytes) is assessed. Ultrasound confirms the diagnosis. Genetic testing is performed to confirm the type of PKD and guide counseling. Some mildly affected babies may have no symptoms at birth.
1-12 months
Management focuses on controlling blood pressure (often with ACE inhibitors or ARBs), monitoring kidney function, and supporting adequate nutrition and growth. Liver involvement in ARPKD may cause hepatic fibrosis and portal hypertension, which is monitored with imaging and blood tests. Some babies may need treatment for electrolyte imbalances or acidosis. Feeding difficulties are common in babies with significantly enlarged kidneys. Regular follow-up with pediatric nephrology and hepatology is essential.
1-5 years
Children with ARPKD continue to need close monitoring of kidney function, blood pressure, and liver health. Growth may be slower than peers. Some children develop chronic kidney disease that progresses at variable rates. UTIs should be treated promptly. For ADPKD detected in childhood, kidney cysts may be monitored with periodic imaging. Blood pressure monitoring is important even in ADPKD. Genetic counseling helps families understand inheritance patterns and risks for future pregnancies.
5 years+
Long-term outcomes vary significantly. Some children with ARPKD maintain stable kidney function for years, while others progress to end-stage kidney disease requiring dialysis or transplantation. Liver complications may also progress and occasionally require liver transplant. Advances in treatment are improving outcomes. Children with ADPKD detected in childhood are generally monitored with periodic imaging and blood pressure management, with most maintaining good kidney function through childhood. Tolvaptan and other emerging therapies may play a role in the future.
What to Tell Your Pediatrician
- Describe when you first noticed has polycystic kidney disease (pkd) and how it has changed over time.
- Note your baby's current age and which age-specific patterns you are seeing.
- Mention if you notice your baby's abdomen seems unusually large or firm.
- Mention if your child has recurrent urinary tract infections.
- Let your doctor know if you have noticed any related concerns, such as changes in feeding, sleep, or movement patterns.
- Bring a list of any questions or observations you want to discuss at the appointment.
What Should You Do?
When to take action
- Your child has been diagnosed with PKD and is being followed by pediatric nephrology
- Blood pressure is well controlled with or without medication
- Kidney function remains stable on blood tests
- Your child is growing and developing appropriately for age
- You have received genetic counseling and understand the inheritance pattern
- You notice your baby's abdomen seems unusually large or firm
- Your child has recurrent urinary tract infections
- You are concerned about your child's growth or appetite
- You have questions about genetic testing or risks for other family members
- Your newborn is having difficulty breathing, which may be caused by very large kidneys compressing the lungs
- Your child has a high fever with back pain or foul-smelling urine, which could indicate a kidney infection
- Your child has blood in the urine (hematuria), especially if painful
- Your child shows signs of severe hypertension: headache, vomiting, visual changes, or seizures
- Your child has signs of worsening kidney function: decreased urine output, swelling, nausea, or fatigue
What You Can Do at Home
- Keep track of when you notice has polycystic kidney disease (pkd) — noting the time of day, duration, and any triggers can help your pediatrician.
- Remember that your child has been diagnosed with PKD and is being followed by pediatric nephrology — this is generally within the range of normal.
- At Prenatal, focus on observation rather than intervention unless your pediatrician advises otherwise.
- Follow any care instructions from your pediatrician. Keep a written log of symptoms to bring to appointments.
- While monitoring at home, seek immediate care if your newborn is having difficulty breathing, which may be caused by very large kidneys compressing the lungs.
Related Conditions
20-Week Anatomy Scan Unexpected Findings
The 20-week anatomy scan checks your baby's major organs, structures, and growth. Most scans are completely normal. When unexpected findings are identified, they range from minor variants that resolve on their own to conditions that need further evaluation. Many findings require nothing more than a follow-up ultrasound to confirm the baby is developing well.
Baby Has a High Fever Over 104 Degrees F
A fever above 104 degrees F (40 degrees C) in a baby or toddler can be alarming, but the height of the fever alone does not necessarily indicate a more serious illness. Many common childhood viral infections (like roseola) can cause high fevers. What matters more than the number is how your child looks and behaves. A child with a 104 degree F fever who is still alert, making eye contact, and drinking fluids is less concerning than a child with a 102 degree F fever who is limp and unresponsive. However, fevers above 104 degrees F should always be discussed with your pediatrician.
Related Resources
Frequently asked questions
Is has polycystic kidney disease (pkd) normal?
When should I call the doctor about has polycystic kidney disease (pkd)?
When is has polycystic kidney disease (pkd) normal?
What causes has polycystic kidney disease (pkd)?
What should I mention to my pediatrician about has polycystic kidney disease (pkd)?
Is has polycystic kidney disease (pkd) normal at Prenatal?
Is has polycystic kidney disease (pkd) normal at 0-1 month?
Should I go to the ER for has polycystic kidney disease (pkd)?
Does has polycystic kidney disease (pkd) go away on its own?
References
- [1]National Institute of Diabetes and Digestive and Kidney Diseases. Polycystic Kidney Disease in Children. NIDDK, 2024. NIH
- [2]National Institutes of Health. Autosomal Recessive Polycystic Kidney Disease. Genetic and Rare Diseases Information Center (GARD), 2024. NIH
- [3]Children's Hospital of Philadelphia. Polycystic Kidney Disease in Children. Children's Hospital
Doctor Visit Checklist
Bring this checklist to your next pediatrician visit to discuss My Baby Has Polycystic Kidney Disease (PKD).
Things to mention
- Describe when you first noticed has polycystic kidney disease (pkd) and how it has changed over time.
- Note your baby's current age and which age-specific patterns you are seeing.
- Mention if you notice your baby's abdomen seems unusually large or firm.
- Mention if your child has recurrent urinary tract infections.
- Let your doctor know if you have noticed any related concerns, such as changes in feeding, sleep, or movement patterns.
- Bring a list of any questions or observations you want to discuss at the appointment.
Observations to share
- You notice your baby's abdomen seems unusually large or firm
- Your child has recurrent urinary tract infections
- You are concerned about your child's growth or appetite
Urgent signs to report immediately
- Your newborn is having difficulty breathing, which may be caused by very large kidneys compressing the lungs
- Your child has a high fever with back pain or foul-smelling urine, which could indicate a kidney infection
- Your child has blood in the urine (hematuria), especially if painful
My notes
From ismybabyalright.com — free, evidence-based baby health guides
All content follows our editorial policy and is reviewed against published clinical guidelines.
2,705 evidence-based guides6 authoritative medical sources5 medical advisory board members
Related Resources
Bottom line
Most cases of has polycystic kidney disease (pkd) are normal. Talk to your pediatrician if your newborn is having difficulty breathing, which may be caused by very large kidneys compressing the lungs.
Trust your instincts. If something feels wrong, reach out to your pediatrician. Worrying about your baby means you care — that is a good thing.
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Related Medical Concerns
20-Week Anatomy Scan Unexpected Findings
The 20-week anatomy scan checks your baby's major organs, structures, and growth. Most scans are completely normal. When unexpected findings are identified, they range from minor variants that resolve on their own to conditions that need further evaluation. Many findings require nothing more than a follow-up ultrasound to confirm the baby is developing well.
Baby Has a High Fever Over 104 Degrees F
A fever above 104 degrees F (40 degrees C) in a baby or toddler can be alarming, but the height of the fever alone does not necessarily indicate a more serious illness. Many common childhood viral infections (like roseola) can cause high fevers. What matters more than the number is how your child looks and behaves. A child with a 104 degree F fever who is still alert, making eye contact, and drinking fluids is less concerning than a child with a 102 degree F fever who is limp and unresponsive. However, fevers above 104 degrees F should always be discussed with your pediatrician.
My Baby's Head Shape Looks Abnormal
Many babies develop temporary head shape irregularities that are completely normal. A cone-shaped head from vaginal delivery reshapes within days. Mild positional flattening (plagiocephaly) from sleeping on the back is very common and usually improves with repositioning and tummy time. However, head shape changes involving ridges, a persistently bulging fontanelle, or rapid head growth changes should be evaluated to rule out craniosynostosis.
Achondroplasia (Dwarfism) in Babies
Achondroplasia is the most common form of short-limbed dwarfism, affecting about 1 in 15,000 to 40,000 births. It is caused by a mutation in the FGFR3 gene and is usually apparent at birth with characteristic features including short limbs, a larger head, and a prominent forehead. Intelligence is normal. With monitoring for specific complications and supportive care, children with achondroplasia lead full, active, and independent lives.
Adenoid Hypertrophy and Breathing
Adenoids are lymphoid tissue located behind the nose that help fight infection in young children. When adenoids become enlarged (adenoid hypertrophy), they can block the nasal airway, causing chronic mouth breathing, snoring, nasal speech, and sleep-disordered breathing. Enlarged adenoids are most common between ages 2-7 and are a leading cause of obstructive sleep apnea in young children. Treatment ranges from watchful waiting and nasal steroids to surgical removal (adenoidectomy) if breathing or sleep is significantly affected.
Adrenoleukodystrophy (ALD) in Babies
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder affecting about 1 in 17,000 newborns, caused by mutations in the ABCD1 gene on the X chromosome. It primarily affects boys and impairs the breakdown of very long-chain fatty acids (VLCFAs), which accumulate and damage the myelin sheath in the brain and the adrenal glands. The most severe form, cerebral ALD, typically affects boys between ages 4-10 with rapid neurological decline. Newborn screening now enables early detection, and hematopoietic stem cell transplant or gene therapy performed before significant brain involvement can be life-saving.