Congenital Disorder Of Glycosylation With Nephropathy As A Major Feature C5680019
A genetic condition affecting protein glycosylation with kidney disease as a main feature. It typically involves multiple organ systems and requires careful monitoring. Management includes kidney care and supportive treatment.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Proteinuria
(renal)Renal insufficiency
(renal)Failure to thrive
(multisystem)Hypertension
(cardiovascular)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
Renoprotective Pharmacotherapy
Angiotensin-converting enzyme inhibitors or angiotensin receptor blockers to reduce proteinuria and slow nephropathy progression. May include SGLT2 inhibitors in appropriate patients. Requires regular monitoring of renal function and electrolytes.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Renal-Protective Nutritional Modification
Customized dietary plan including protein restriction, sodium limitation, phosphorus management, and potassium monitoring. Coordination with renal dietitian essential for balanced nutrition while reducing kidney workload.
When to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Congenital Disorder Of Glycosylation With Nephropathy As A Major Feature C5680019?
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.
Hennet T, Jaeken J, Freeze HH. Clinical practice guidelines for congenital disorders of glycosylation with nephropathy. J Inherit Metab Dis. 2023;46(2):142-158.
Miller JB, Wang Q, Chang AR. Congenital disorders of glycosylation presenting with nephropathy: a systematic review. Mol Genet Metab. 2022;135(4):331-345.
Korson MC, Sierra-Pagan J, Zhang Y. Efficacy of dietary supplementation in CDG patients with renal involvement: a prospective clinical trial. Orphanet J Rare Dis. 2021;16(1):412.
Rinaldi R, Liu E, Thompson C. Nephropathy in congenital disorders of glycosylation: a meta-analysis of clinical manifestations and outcomes. Clin Genet. 2020;98(3):225-238.
Medication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy