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Pierson syndrome
ICD-10 Codes
Related ICD-10:
Description
Pierson Syndrome: A Rare Genetic Disorder
Pierson syndrome is a rare genetic disorder characterized by congenital nephrotic syndrome, ocular abnormalities, and neurodevelopmental impairment [3]. It is an autosomal recessive disease, meaning that it is inherited in an autosomal recessive pattern, where a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [2][7].
Key Features:
- Congenital nephrotic syndrome: A rare kidney disorder characterized by excessive loss of protein in the urine [1].
- Ocular abnormalities: Distinct ocular anomalies, including microcoria (small corneas), are a hallmark of Pierson syndrome [6].
- Neurodevelopmental impairment: Affected individuals may experience developmental delays and intellectual disability [3].
Causes and Genetics:
Pierson syndrome is caused by mutations in the LAMB2 gene, which encodes the laminin β2 chain [7]. This protein plays a crucial role in the development of the kidneys and eyes. The disease is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.
References:
[1] Context result 9 [2] Context result 2 [3] Context result 3 [6] Context result 6 [7] Context result 7
Additional Characteristics
- ocular abnormalities
- Congenital nephrotic syndrome
- neurodevelopmental impairment
Signs and Symptoms
Pierson Syndrome Signs and Symptoms
Pierson syndrome, also known as Pearson syndrome, is a rare genetic disorder characterized by congenital nephrotic syndrome, ocular abnormalities, and neurodevelopmental impairment.
- Neurological manifestations: Severe global development delay, marked muscle hypotonia (low muscle tone), movement disorders, and blindness are some of the neurological symptoms associated with Pierson syndrome [1].
- Ocular abnormalities: Blindness, cataract, high myopia, hypopigmentation of the fundus, hypoplasia of the ciliary body, hypoplasia of the iris, and macular hypoplasia are some of the eye-related symptoms [4].
- Congenital nephrotic syndrome: This is a condition characterized by severe kidney disease present at birth [3].
- Neurodevelopmental impairment: Children with Pierson syndrome may experience failure to thrive, neurological symptoms such as hypotonia, speech delay, and muscular hypertrophy, and gastrointestinal symptoms like vomiting and chronic diarrhea [8].
These symptoms can vary in severity and presentation among individuals with Pierson syndrome.
References: [1] Context result 1 [2] Context result 5 [3] Context result 6 [4] Context result 4 [8] Context result 8
Additional Symptoms
- Hypotonia
- Movement disorders
- Chronic diarrhea
- High myopia
- Speech delay
- Congenital nephrotic syndrome
- Severe global development delay
- Marked muscle hypotonia (low muscle tone)
- Cataract
- Hypopigmentation of the fundus
- Hypoplasia of the ciliary body
- Hypoplasia of the iris
- Macular hypoplasia
- Muscular hypertrophy
- failure to thrive
- blindness
- vomiting
Diagnostic Tests
Pierson syndrome is a rare genetic disorder that can be diagnosed through various diagnostic tests.
Early and Reliable Prenatal Diagnosis Only genetic testing allows early and reliable prenatal diagnosis of Pierson syndrome [1]. This is crucial for families who may have a history of the disease-causing mutation.
Diagnostic Tests for Pierson Syndrome Several diagnostic tests can confirm the presence of Pierson syndrome:
- Bone Marrow Biopsy: A bone marrow biopsy can be used to diagnose Pearson syndrome, which is often confused with Pierson syndrome [5].
- Urine Test: A urine test can also be used to diagnose Pearson syndrome.
- Stool Sample Testing: Stool sample testing can be performed to confirm the diagnosis of Pearson syndrome.
- Genetic Testing: Genetic testing can be performed to confirm the presence of the LAMB2 mutation, which causes Pierson syndrome [8].
Exome-Based Next-Gen Sequencing Our favored testing approach is exome-based Next-Gen sequencing with CNV analysis [4]. This allows for cost-effective reflexing to PGxome or other exome-based platforms.
Clinical Genetic Test A clinical genetic test offered by Laboratory for Molecular Diagnostics can also be used to diagnose Pierson syndrome, which involves testing the LAMB2 gene [7].
These diagnostic tests are essential for confirming the presence of Pierson syndrome and ruling out other conditions that may have similar symptoms.
Additional Diagnostic Tests
- Urine Test
- Genetic Testing
- Bone Marrow Biopsy
- Clinical Genetic Test
- Stool Sample Testing
- Exome-Based Next-Gen Sequencing
Treatment
Pierson syndrome, also known as Pierson's syndrome, is a rare genetic disorder that affects the kidneys and eyes. While there is no cure for this condition, various treatments can help manage its symptoms.
Current Treatments
According to available information [3], Pierson syndrome is characterized by congenital nephrotic syndrome and distinct ocular abnormalities. However, specific treatment options are limited due to the rarity of the condition.
- Laminin-521 Protein Therapy: Research has shown that laminin-521 protein therapy may be beneficial in treating glomerular basement membrane and podocyte abnormalities associated with Pierson syndrome [4].
- Coenzyme Q10 and Nutritional Supplements: Some studies suggest that a therapeutic trial of coenzyme Q10, along with a combination of additional nutrients such as creatine, arginine, L-Carnitine, may be beneficial for patients with primary mitochondrial diseases, including Pearson syndrome [6].
Clinical Trials
Several clinical trials have been conducted to explore potential treatments for Pierson syndrome. For example:
- Vatiquinone: A Phase 2 trial of vatiquinone was terminated due to lack of efficacy in treating Pearson's syndrome (NCT02104336).
- EPI-743: Another Phase 2 study of EPI-743 in children with Pearson syndrome is ongoing, but its current status and results are not publicly available.
Important Note
It is essential to consult with a healthcare professional for medical advice and treatment. They can provide personalized guidance based on the individual's specific condition and needs.
References:
[3] Pierson syndrome is characterized by congenital nephrotic syndrome and distinct ocular abnormalities. [4] Laminin-521 Protein Therapy for Glomerular Basement Membrane and Podocyte Abnormalities in a Model of Pierson Syndrome. [6] Many doctors suggest a therapeutic trial of coenzyme Q10, along with
Recommended Medications
- Laminin-521 Protein Therapy
- Vatiquinone
- EPI-743
- coenzyme Q10
- ubidecarenone
💊 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
Pierson syndrome, also known as Pierson's syndrome, is a rare genetic disorder that affects the development and function of various organs in the body. When considering the differential diagnosis of Pierson syndrome, several other conditions should be taken into account.
- Congenital nephrotic syndromes: These are a group of kidney disorders that are present at birth. They can cause severe proteinuria (excess protein in the urine) and edema (swelling). Pierson syndrome is often included in the differential diagnosis for congenital nephrotic syndromes, especially in patients with ocular abnormalities [5].
- Other inherited blood disorders: Pierson syndrome is associated with anemia and variable congenital abnormalities. In a cohort of 362 individuals clinically confirmed but not genetically confirmed, Pierson syndrome was found to be one of the inherited blood disorders associated with these symptoms [4].
- Mitochondrial DNA deletions: Pearson syndrome, which is similar to Pierson syndrome, is caused by mitochondrial DNA (mtDNA) deletions of variable size and location. This can lead to a range of symptoms, including renal failure, anemia, and lactic acidosis [9].
It's worth noting that the differential diagnosis for Pierson syndrome also includes other conditions such as Denys-Drash syndrome, which is characterized by rapid progression to end-stage renal disease, and Fanconi Anemia, which is a genetic disorder that affects the development of various organs in the body [8].
Additional Differential Diagnoses
- Galloway-Mowat syndrome 1
- nephrotic syndrome type 14
- nephrotic syndrome type 15
- nephrotic syndrome type 13
- nephrotic syndrome type 11
- nephrotic syndrome type 10
- nephrotic syndrome type 8
- nephrotic syndrome type 19
- Congenital nephrotic syndromes
- Other inherited blood disorders
- Mitochondrial DNA deletions
- Fanconi anemia
- Denys-Drash syndrome
Additional Information
- relatedICD
- http://example.org/icd10/P56.0
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0060852
- oboInOwl#hasDbXref
- UMLS_CUI:C1836876
- oboInOwl#hasExactSynonym
- microcoria-congenital nephrosis syndrome
- IAO_0000115
- A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#NCIthesaurus
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1813
- owl#annotatedSource
- t345855
- core#notation
- DOID:0060852
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- Pierson syndrome
- rdf-schema#subClassOf
- t345697
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.