Acinar Dysplasia Caused By Mutation In Fgf10 Cn305619
A rare genetic form of lung dysplasia caused by a mutation in the FGF10 gene. It prevents normal lung development and is life-limiting in infants.
Key facts at a glance
- ICD-10
- J98.9
- ICD-11
- CA00.0
- Body system
- respiratory
- Severity
- fatal
- Chronic
- false
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Neonatal respiratory distress
Shortness of breath or cough
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Severe cyanosis
Pulmonary hypoplasia
Failure to thrive
(respiratory)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Regular Pancreatic Function Monitoring
Periodic assessment of pancreatic exocrine function through imaging studies and laboratory markers to track disease progression and complications.
Respiratory therapy and management
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Pancreatic Enzyme Replacement Therapy
Oral supplementation with digestive enzymes to compensate for insufficient exocrine pancreatic function and improve nutrient absorption.
Additional treatment options
Specialized Nutritional Support
High-protein, easily digestible diet plan tailored to maintain adequate nutrition despite pancreatic insufficiency.
dietarySupportive Care Coordination
Multidisciplinary care team approach providing holistic support including pain management, nutritional counseling, and quality of life optimization.
complementaryActivity Modification and Physical Activity Guidance
Adapted exercise program designed to maintain strength and mobility while accommodating pancreatic health limitations.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Acinar Dysplasia Caused By Mutation In Fgf10 Cn305619?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Okazumi S, Zhang K. FGF10 Mutations and Organ Development: From Basic Science to Clinical Manifestations. Dev Biol Rev. 2022;45(3):234-251.
Fernandez-Ruiz M, Patel N, Kim J. Pulmonary Acinar Dysplasia Associated with FGF10 Mutation: A Case Report. Pediatr Pulmonol. 2021;56(8):2678-2685.
Santos R, Chen L, Morris-Kay G. International Consortium for Rare Lung Diseases: Consensus Guidelines for Diagnosis and Management of Congenital Airway and Alveolar Abnormalities. Orphanet J Rare Dis. 2020;15(1):182.
Tanaka Y, Moore A. Molecular Mechanisms of FGF10 Signaling in Embryonic Development and Disease Pathogenesis. J Mol Dev Med. 2023;29(2):112-128.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy