Congenital pulmonary airway malformation type 1

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Overview

Congenital pulmonary airway malformation type 1 (CPAM type 1), also known as congenital cystic adenomatoid malformation type 1 (CCAM type 1), is a rare lung condition that develops before birth. It occurs when a section of the lung does not form properly during fetal development, resulting in one or more large fluid-filled or air-filled cysts (sacs) in the lung tissue. Type 1 is the most common form of CPAM, making up about 60-70% of all cases. The cysts in type 1 are typically large, usually between 2 and 10 centimeters in diameter. This condition affects how the lungs work because the abnormal cystic tissue takes up space where normal, functioning lung tissue should be. In many cases, CPAM type 1 is detected during a routine prenatal ultrasound. After birth, some babies may have breathing difficulties, recurrent lung infections, or respiratory distress, while others may have no symptoms at all initially. The severity depends on the size and location of the cysts and whether they compress surrounding healthy lung tissue. The main treatment for CPAM type 1 is surgical removal of the affected portion of the lung, a procedure called lobectomy or segmentectomy. Surgery is generally recommended even in patients without symptoms because of the risk of recurrent infections and a very small but possible risk of malignant transformation later in life. The prognosis after surgery is generally excellent, with most children going on to live normal, healthy lives. In rare cases where the malformation is very large, it may cause complications before or shortly after birth that require urgent intervention.

Also known as:

Key symptoms:

Breathing difficulty at birth or in infancyRapid breathingBluish skin color due to low oxygenRecurrent lung infections or pneumoniaCough that keeps coming backChest tightness or discomfortFeeding difficulties in newbornsFailure to thrive or poor weight gainAbnormal findings on prenatal ultrasoundAir trapping in the affected lung areaChest asymmetry in severe casesNo symptoms at all in some cases (found incidentally)

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Congenital pulmonary airway malformation type 1.

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No actively recruiting trials found for Congenital pulmonary airway malformation type 1 at this time.

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No specialists are currently listed for Congenital pulmonary airway malformation type 1.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Congenital pulmonary airway malformation type 1.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.How large is the malformation and where exactly is it located in my child's lung?,When is the best time to have surgery, and what type of surgery do you recommend?,What are the risks of surgery versus the risks of waiting or not having surgery?,Will my child's lung function be normal after surgery?,What is the risk of the cyst coming back or developing into something more serious?,What follow-up tests and appointments will be needed after surgery?,Are there any activity restrictions my child will need to follow after recovery?

Common questions about Congenital pulmonary airway malformation type 1

What is Congenital pulmonary airway malformation type 1?

Congenital pulmonary airway malformation type 1 (CPAM type 1), also known as congenital cystic adenomatoid malformation type 1 (CCAM type 1), is a rare lung condition that develops before birth. It occurs when a section of the lung does not form properly during fetal development, resulting in one or more large fluid-filled or air-filled cysts (sacs) in the lung tissue. Type 1 is the most common form of CPAM, making up about 60-70% of all cases. The cysts in type 1 are typically large, usually between 2 and 10 centimeters in diameter. This condition affects how the lungs work because the abnor

How is Congenital pulmonary airway malformation type 1 inherited?

Congenital pulmonary airway malformation type 1 follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Congenital pulmonary airway malformation type 1 typically begin?

Typical onset of Congenital pulmonary airway malformation type 1 is neonatal. Age of onset can vary across affected individuals.