Pierson syndrome

A hereditary autosomal recessive disorder characterized by congenital nephrotic syndrome with diffuse SCLEROSIS of the GLOMERULAR MESANGIUM and distinct ocular abnormalities, including microcoria (narrowing of the pupil) and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die in infancy, and those who survive tend to show neurodevelopmental delay and visual loss. Mutations in the LAMB2 gene have been identified. OMIM: 150325

Also Known As:

Networked: 42 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Lambert-Eaton Myasthenic Syndrome (Lambert-Eaton Syndrome)
2.	Nephrotic Syndrome (Syndrome, Nephrotic)
3.	Hereditary Nephritis (Alport Syndrome)
4.	Inborn Genetic Diseases (Disease, Hereditary)
5.	Nail-Patella Syndrome (Syndrome, Nail-Patella)

Experts

1.	Miner, Jeffrey H: 9 articles (01/2021 - 03/2006)
2.	Zenker, Martin: 6 articles (01/2018 - 01/2006)
3.	Kikkawa, Yamato: 4 articles (01/2021 - 05/2011)
4.	Matejas, Verena: 4 articles (09/2010 - 02/2007)
5.	Lin, Meei-Hua: 3 articles (01/2020 - 01/2018)
6.	Kogan, Jillene: 3 articles (09/2010 - 08/2006)
7.	Zurowska, Aleksandra: 3 articles (09/2010 - 01/2006)
8.	Alsulaiman, Sulaiman M: 2 articles (01/2021 - 11/2020)
9.	Iijima, Kazumoto: 2 articles (01/2021 - 10/2018)
10.	Liapis, Helen: 2 articles (01/2021 - 07/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pierson syndrome:

1.	Laminin (Merosin)IBA 02/24/2023 - "The Pierson syndrome is caused by a mutation of the LAMB2 gene, that encodes laminin beta 2, which is expressed in the glomerular basement membrane, in neuromuscular junctions, and within ocular structures. " 01/01/2023 - "Its failures cause laminin N-terminal domain lamininopathies including Pierson syndrome. " 01/01/2021 - "Mutations in LAMB2, encoding laminin β2, cause Pierson syndrome and occasionally milder nephropathy without extrarenal abnormalities. " 11/01/2020 - "Pierson syndrome is caused by mutations in the laminin β2 gene causing absent β2 laminin, which is a normal component of the basement membranes of the mature glomerulus, structures in the anterior eye and neuromuscular junctions. " 10/01/2018 - "Ocular findings in a case of Pierson syndrome with a novel mutation in laminin ß2 gene."
2.	AutoantibodiesIBA 12/01/2012 - "These molecular mechanisms are supported by studies in P/Q- and N-type VDCCs double-knockout mice, and they are consistent with the pathological conditions of Lambert-Eaton myasthenic syndrome and Pierson syndrome, which are caused by autoantibodies against VDCCs or by a laminin β2 mutation. "
3.	laminin beta2 (S-laminin)IBA 09/01/2010 - "The majority of disease-causing LAMB2 mutations are truncating, consistent with the hypothesis that loss of laminin beta2 function is the molecular basis of Pierson syndrome. " 02/01/2008 - "Recently, mutations in the LAMB2 gene encoding laminin beta2 were described as the cause of Pierson syndrome, which is characterized by CNS and a complex ocular maldevelopment with microcoria as the most prominent clinical features. " 02/15/2007 - "Our findings indicate that severe neurodevelopmental deficits have to be considered as part of Pierson syndrome, at least in the presence of biallelic functional null mutations (complete lack of laminin beta2). " 02/15/2007 - "LAMB2 mutations leading to lack of laminin beta2 were identified as the molecular cause underlying Pierson syndrome. " 03/01/2006 - "Pierson syndrome is a recently defined disease usually lethal within the first postnatal months and caused by mutations in the gene encoding laminin beta2 (LAMB2). "
4.	Proteins (Proteins, Gene)FDA Link 07/01/2013 - "Taken together, these results suggest that the mild variant of Pierson syndrome caused by the C321R-LAMB2 mutation may be a prototypical ER storage disease, which may benefit from treatment approaches that target the handling of misfolded proteins. " 01/01/2018 - "Laminin-521 Protein Therapy for Glomerular Basement Membrane and Podocyte Abnormalities in a Model of Pierson Syndrome." 01/01/2020 - "Mutations in LAMB2, encoding the basement membrane protein, laminin β2, are associated with an autosomal recessive disorder characterized by congenital nephrotic syndrome, ocular abnormalities, and neurodevelopmental delay (Pierson syndrome). " 01/01/2018 - "Other proteins associated with inherited diseases of the GBM include laminin β2 in Pierson syndrome and LMX1B in nail patella syndrome. " 09/13/2011 - "Pierson syndrome is a congenital nephrotic syndrome with ocular and neurological defects caused by mutations in LAMB2, the gene encoding the basement membrane protein laminin β2 (Lamβ2). "
5.	Collagen Type IV (Type IV Collagen)IBA 07/01/2012 - "Genetic diseases affecting laminin and type IV collagen synthesis also are presented, with an emphasis on mutations to LAMB2 (Pierson syndrome) and COL4A3, COL4A4, and COL4A5 (Alport syndrome), and their experimental mouse models. " 01/01/2008 - "The importance of the GBM has been demonstrated by identification of hereditary glomerular diseases linked to structural anomalies of its components; for example, type IV collagen in Alport syndrome and familial benign hematuria, and laminin in Pierson syndrome. " 01/01/2011 - "This chapter describes several well-characterized animal models of type IV collagen disorders (Alport syndrome, HANAC syndrome), a laminin disorder (Pierson syndrome), nail-patella syndrome and HERNS syndrome. "
6.	Retinaldehyde (Retinal)IBA 11/01/2020 - "The authors aim to describe the posterior segment and retinal features in Pierson syndrome. " 01/01/2021 - ": This case expands our knowledge on retinal ischemia in the setting of Pierson syndrome. " 04/01/2017 - "The reported phenotype is considered a relatively mild variant of Pierson syndrome and is associated with later-onset (18 months) therapy-resistant nephrotic syndrome leading to renal failure, and ocular abnormalities consisting of high myopia, microcoria, diverse retinal abnormalities, hence a low level of visual acuity. "
7.	Protein Isoforms (Isoforms)IBA 09/01/2010 - "LAMB2 encodes the basement membrane protein laminin beta2, which is incorporated in specific heterotrimeric laminin isoforms and has an expression pattern corresponding to the pattern of organ manifestations in Pierson syndrome. "
8.	Laminin ReceptorsIBA 01/01/2017 - "Disruption of these laminins or the laminin-receptor interaction occurs in neuromuscular diseases including Pierson syndrome and Lambert-Eaton myasthenic syndrome (LEMS). "
9.	Extracellular Matrix ProteinsIBA 01/01/2011 - "This review provides current information about glomerular disorders that arise directly from inherited abnormalities in extracellular matrix proteins intrinsic to the glomerular basement membrane (Alport syndrome, thin basement membrane nephropathy, HANAC syndrome and Pierson syndrome). "
10.	Heparin (Liquaemin)FDA LinkGeneric 01/01/2021 - "Although Pierson syndrome missense mutations often inhibit laminin β2 secretion, the 3 recombinant variants were secreted as efficiently as WT. However, the β2 variants lost pH dependency for heparin binding, resulting in aberrant binding under physiologic conditions. "

Therapies and Procedures

1.	Therapeutics 01/01/2020 - "There are no specific therapies for Pierson syndrome and treatment is supportive. " 01/01/2018 - "Laminin-521 Protein Therapy for Glomerular Basement Membrane and Podocyte Abnormalities in a Model of Pierson Syndrome." 04/01/2017 - "The reported phenotype is considered a relatively mild variant of Pierson syndrome and is associated with later-onset (18 months) therapy-resistant nephrotic syndrome leading to renal failure, and ocular abnormalities consisting of high myopia, microcoria, diverse retinal abnormalities, hence a low level of visual acuity. "
2.	Renal Replacement Therapy (Therapies, Renal Replacement) 02/15/2007 - "Here we provide a detailed description of neurological manifestations and development in four patients affected by Pierson syndrome, who survived until the age of 1.3-4.8 years owing to renal replacement therapy. " 03/01/2006 - "We conclude that muscle defects in Lamb2(-/-) mice are responsible for the severe failure to thrive phenotype, and that renal replacement therapy alone will be an inadequate treatment for Pierson syndrome."
3.	Kidney Transplantation 01/01/2021 - "Five-Year Follow-Up and Successful Kidney Transplantation in a Girl with a Severe Phenotype of Pierson Syndrome." 12/01/2017 - "Children with Pierson syndrome must be evaluated in terms of kidney transplantation as soon as they are diagnosed." 12/01/2017 - "Kidney transplantation in a child with Pierson syndrome."