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ARC syndrome
ICD-10 Codes
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Description
What is ARC Syndrome?
ARC syndrome, also known as Arthrogryposis-Renal Dysfunction-Cholestasis syndrome, is a rare and severe genetic disorder that affects multiple systems in the body.
Key Features of ARC Syndrome:
- Arthrogryposis: Congenital joint contractures, which can lead to stiffness and limited mobility.
- Renal Tubular Dysfunction: A condition where the kidneys are unable to properly filter waste from the blood, leading to various complications such as polyuria (excessive urine production), aminoaciduria (excretion of amino acids in the urine), glycosuria (excretion of glucose in the urine), phosphaturia (excretion of phosphate in the urine), and bicarbonate wasting.
- Neonatal Cholestasis: A condition where there is a blockage or narrowing of the bile ducts, leading to jaundice (yellowing of the skin and eyes) in newborns.
Other Features:
- Severe failure to thrive
- Platelet dysfunction, which can lead to severe bleeding
- Facial dysmorphism, including low-set ears, lax skin, high-arched palate, and beaked nose
Prognosis: ARC syndrome is a fatal disorder, with most patients not surviving beyond one year.
References:
- [2] Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare disease with a high mortality rate caused by VPS33B or VIPAS39 mutations.
- [3] September 20, 2014 - Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare but fatal autosomal recessive multisystem disorder caused by mutations in the VPS33B or VIPAR gene.
- [8] The classical presentation of ARC includes congenital joint contractures, renal tubular dysfunction, and cholestasis.
- [9] ARC syndrome typically presents with arthrogryposis, renal tubular leak and neonatal cholestatic jaundice, and most patients with this disease do not survive beyond one year.
Additional Characteristics
- Low-set ears
- Facial dysmorphism
- High-arched palate
- Arthrogryposis-Renal Dysfunction-Cholestasis syndrome
- Congenital joint contractures
- Renal tubular dysfunction
- Neonatal cholestasis
- Severe failure to thrive
- Platelet dysfunction
- Lax skin
- Beaked nose
Signs and Symptoms
Classical Presentation of ARC Syndrome
ARC syndrome, also known as Arthrogryposis-Renal Tubular Dysfunction-Cholestasis (ARTC) syndrome, is a rare multisystem disorder characterized by congenital joint contractures, renal tubular dysfunction, and cholestatic jaundice. The classical presentation of this condition includes:
- Congenital Joint Contractures: This refers to the presence of joint contractures at birth, which can affect multiple joints in the body [3].
- Renal Tubular Dysfunction: This involves impaired function of the renal tubules, leading to various complications such as electrolyte imbalances and acid-base disturbances [4].
- Cholestatic Jaundice: This is a condition characterized by an obstruction in the bile ducts, leading to a buildup of bilirubin in the blood and tissues, resulting in jaundice [5].
Additional Features
In addition to these classical features, ARC syndrome can also present with other symptoms such as:
- Failure to Thrive: This refers to a condition where an infant or child fails to gain weight or grow at a normal rate [1].
- Hyperbilirubinemia: This is a condition characterized by elevated levels of bilirubin in the blood, which can lead to jaundice and other complications [1].
- Facial Dysmorphism: This refers to abnormalities in the shape and structure of the face [1].
References
[1] Context result 1: Jan 11, 2022 — Other neonatal signs and symptoms include failure to thrive, hyperbilirubinemia, jaundice, facial dysmorphism, sensorineural deafness, joint ...
[3] Context result 3: by Y Zhou · 2014 · Cited by 73 — The classical presentation of ARC includes congenital joint contractures, renal tubular dysfunction, and cholestasis. Additional features ...
[4] Context result 4: by L Yu · 2022 · Cited by 1 — ARC syndrome typically presents with arthrogryposis, renal tubular leak and neonatal cholestatic jaundice, and most patients with this disease ...
[5] Context result 5: Nov 22, 2022 — Severe tenderness when you touch your belly area; Swelling of the belly area; Yellowing of the skin or whites of the eyes (jaundice). Sometimes ...
Additional Symptoms
- Congenital Joint Contractures
- Renal Tubular Dysfunction
- Hyperbilirubinemia
- Facial Dysmorphism
- failure to thrive
- jaundice
Diagnostic Tests
Based on the provided context, it appears that there are several diagnostic tests associated with ARC (Arthrogryposis-Renal Dysfunction-Cholestasis) syndrome.
Clinical Features and Diagnosis
The diagnosis of ARC syndrome relies on clinical features, organ biopsy, and mutational analysis [3]. The triad conditions of arthrogryposis, renal tubular acidosis, and cholestasis are key indicators of the syndrome [3].
Genetic Testing
A test provides full coverage of all coding exons of the VPS33B gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other genes [2]. This genetic testing can help identify mutations associated with ARC syndrome.
Other Diagnostic Tests
Organ biopsy and mutational analysis are also used to diagnose ARC syndrome [3, 9].
It's worth noting that no specific treatment currently exists for this syndrome [9], but early diagnosis through these tests may provide valuable information for managing the condition.
References: [2] - This test provides full coverage of all coding exons of the VPS33B gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other genes. [3] - by Y Zhou · 2014 · Cited by 73 — Currently, clinical diagnosis of ARC syndrome consists of identifying the triad conditions of arthrogryposis, renal tubular acidosis, and ... [9] - by Y Zhou · 2014 · Cited by 73 — Diagnosis of ARC syndrome relies on clinical features, organ biopsy, and mutational analysis. However, no specific treatment currently exists for this syndrome.
Additional Diagnostic Tests
- Genetic testing for VPS33B gene
- Organ biopsy
- Mutational analysis
- The triad conditions of arthrogryposis, renal tubular acidosis, and cholestasis
Treatment
Current Treatment Options for ARC Syndrome
ARC (Arthrogryposis-Renal Dysfunction-Cholestasis) syndrome is a rare and complex genetic disorder that affects multiple systems in the body. While there is no cure for ARC syndrome, various treatment options are available to manage its symptoms and improve quality of life.
- Surgical interventions: Surgery may be necessary to release (decompress) ligaments and restore blood flow through arteries, as mentioned in [12]. This can help alleviate symptoms such as pain and discomfort.
- Supportive treatments: Patients with ARC syndrome often receive supportive treatments like fluid supplementation, anti-infection measures, and enteral nutrition to manage acidosis and other complications [15].
- Medications: Although there is no specific medication approved for the treatment of ARC syndrome, researchers have explored various therapeutic options. For instance, studies have shown that fingolimod (FTY720), a sphingosine 1-phosphate receptor antagonist, may be beneficial in treating neurological disorders associated with ARC [6].
- ARCALYST (rilonacept): This is the first and only FDA-approved therapy to treat recurrent pericarditis and reduce the risk of flares in people 12 years and older [8]. While not specifically designed for ARC syndrome, it may be considered as a treatment option for related conditions.
- Medical detox: In some cases, patients with ARC syndrome may require medical detoxification to manage withdrawal symptoms and other complications [10].
Emerging Therapies
Researchers are actively exploring new therapeutic options to address the unmet needs of patients with rare diseases like ARC syndrome. For example:
- Speeding up effective treatment development: Efforts are being made to accelerate the discovery and approval of safe and effective treatments for rare diseases, including ARC syndrome [9].
- Investigating novel therapies: Studies have been conducted to investigate the potential benefits of various medications in treating neurological disorders associated with ARC syndrome [6].
Conclusion
While there is no specific treatment approved for ARC syndrome, a range of therapeutic options are available to manage its symptoms and improve quality of life. Ongoing research aims to develop more effective treatments for this complex genetic disorder.
References:
[6] Zhu Y. (2022). Most patients with ARC syndrome receive supportive treatments such as fluid supplementation, anti-infection, and enteral nutrition to relieve acidosis... [12]
[8] ARCALYST (rilonacept) is the first and only FDA-approved therapy to treat recurrent pericarditis and reduce risk of flares in people 12 years and older.
[9] Speeding up effective treatment development for rare diseases, including ARC syndrome.
[10] Medical detox has been shown to provide real, lasting positive effects for those who undergo it...
Recommended Medications
- Medical detox
- fingolimod
- Surgical interventions
- Supportive treatments (fluid supplementation, anti-infection measures, enteral nutrition)
- ARCALYST (rilonacept)
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnoses of ARC Syndrome
ARC syndrome, also known as Arthrogryposis Renal Dysfunction Cholestasis syndrome, is a rare autosomal recessive condition characterized by arthrogryposis, renal tubular dysfunction, and cholestasis. When diagnosing ARC syndrome, it's essential to consider several differential diagnoses that may present similar symptoms.
Progressive Familial Intrahepatic Cholestasis Disorders
One of the differential diagnoses for ARC syndrome is Progressive Familial Intrahepatic Cholestasis (PFIC) disorders. These conditions are characterized by a progressive decline in liver function, leading to cholestasis and potentially life-threatening complications [2].
Other Forms of Arthrogryposis Multiplex Congenita
Another differential diagnosis for ARC syndrome is other forms of Arthrogryposis Multiplex Congenita (AMC). AMC is a rare genetic disorder characterized by joint contractures and muscle weakness, which can be similar to the arthrogryposis component of ARC syndrome [3].
Zellweger Syndrome
Zellweger syndrome is another differential diagnosis for ARC syndrome. This rare genetic disorder is characterized by growth restriction, liver disease, and other systemic complications, which can be similar to the symptoms presented in ARC syndrome [4].
Ichthyosis
ARC syndrome should also be considered as a differential diagnosis for ichthyosis, particularly when there are associated abnormalities such as renal tubular dysfunction and cholestasis [8].
In summary, when diagnosing ARC syndrome, it's essential to consider several differential diagnoses that may present similar symptoms. These include PFIC disorders, other forms of AMC, Zellweger syndrome, and ichthyosis.
References:
[1] by Y Zhou · 2014 · Cited by 73 — Diagnosis of ARC syndrome relies on clinical features, organ biopsy, and mutational analysis. However, no specific treatment currently exists ...
[2] by R Rehman · 2024 — Several differential diagnoses were considered including Zellweger syndrome characterized by clinical features of growth restriction, ...
[3] by Y Zhou · 2014 · Cited by 73 — Currently, clinical diagnosis of ARC syndrome consists of identifying the triad conditions of arthrogryposis, renal tubular acidosis, and ...
[4] by HJ Choi · 2005 · Cited by 22 — The ARC syndrome is a rare disease characterized by arthrogryposis, renal tubular dysfunction, and cholestasis (2). Following the initial report ...
[5] by BC Marino — Analysis of platelet morphology may be useful in differential diagnosis against other causes of neonatal cholestasis, since agranular platelets.
[6] Ichthyosis associated with ARC syndrome: ARC syndrome is one of the differential diagnoses of ichthyosis. · Abnormalities, Multiple · Administration, Topical ...
Additional Differential Diagnoses
- Progressive Familial Intrahepatic Cholestasis Disorders
- arthrogryposis multiplex congenita
- ichthyosis
- Zellweger syndrome
Additional Information
- relatedICD
- http://example.org/icd10/E71.310
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_799
- rdf-schema#subClassOf
- t332555
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- t332717
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#created_by
- lschriml
- oboInOwl#creation_date
- 2013-01-17T12:46:38Z
- oboInOwl#id
- DOID:0050763
- oboInOwl#hasDbXref
- ORDO:2697
- oboInOwl#hasExactSynonym
- ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS
- IAO_0000115
- A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
- core#notation
- DOID:0050763
- rdf-schema#label
- ARC syndrome
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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