scholarly journals Pierson syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Pierson Syndrome

scholarly journals Pierson Syndrome Associated with Hypothyroidism and Septic Shock

2020 ◽  
Vol 20 (4) ◽  
pp. e385-389
Author(s):  
Areeba Ejaz ◽  
Meher B. Ali ◽  
Fatima Siddiqui ◽  
Mashal B. Ali ◽  
Ammarah Jamal
Keyword(s):  
Septic Shock ◽  
Nephrotic Syndrome ◽  
Neuromuscular Junctions ◽  
Normal Component ◽  
Congenital Nephrotic Syndrome ◽  
Psychomotor Retardation ◽  
Basement Membranes ◽  
High Dose ◽  
Converting Enzyme Inhibitors ◽  
Pierson Syndrome

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. The mutations manifest as congenital nephrotic syndrome and microcoria which are characteristic ocular features of this disease. These mutations may also result in neurological abnormalities such as hypotonia and psychomotor retardation. We report a two-month old boy who presented to the Pediatrics Department of Dr. Ruth K. M. Pfau Civil Hospital, Karachi, Pakistan, in 2015, with the typical features of microcoria and congenital nephrotic syndrome. The hypocalcaemia, hypoproteinaemia and probable immunocompromised state consequent to nephrotic syndrome resulted in seizures, hypothyroidism and urosepsis. Despite being treated aggressively with high dose antibiotics, ionotropic support, angiotensin-converting enzyme inhibitors, thyroxine replacement and nutritional support, the infant died due to significant multiorgan disease including renal failure and septic shock. Keywords: Pierson Syndrome; Microcoria and Congenital Nephrotic Syndrome; Congenital Microcoria; Hypothyroidism; Septic Shock; Case Report; Pakistan.

Pierson syndrome: A case report with a neonatal cardiac association based on a novel mutation in the LAMB2 gene

2015 ◽  
Vol 4 (4) ◽  
pp. 281
Author(s):  
Hussain Parappil ◽  
Rehab Ali ◽  
Faraz Masud ◽  
Anant Pai ◽  
Nahid Nahavandi ◽  
...  
Keyword(s):  
Case Report ◽  
Novel Mutation ◽  
Pierson Syndrome

AJKD Atlas of Renal Pathology: Pierson Syndrome

2018 ◽  
Vol 71 (4) ◽  
pp. e3-e4
Author(s):  
Mark A. Lusco ◽  
Behzad Najafian ◽  
Charles E. Alpers ◽  
Agnes B. Fogo
Keyword(s):  
Renal Pathology ◽  
Pierson Syndrome

scholarly journals Gastrointestinal symptoms as an extended clinical feature of Pierson syndrome: a case report and review of the literature

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Kei Nishiyama ◽  
Mari Kurokawa ◽  
Michiko Torio ◽  
Yasunari Sakai ◽  
Mitsuru Arima ◽  
...  
Keyword(s):  
Case Report ◽  
Gastrointestinal Symptoms ◽  
Clinical Feature ◽  
Review Of The Literature ◽  
Pierson Syndrome

scholarly journals A Novel Homozygous Truncating Mutation in LAMB2 Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome

2019 ◽  
Vol 6 ◽  
Author(s):  
Hong Tao Zhu ◽  
Mireguli Maimaiti ◽  
Chen Cao ◽  
Yan Fei Luo ◽  
Delihuma Julaiti ◽  
...  
Keyword(s):  
Severe Phenotype ◽  
Truncating Mutation ◽  
Pierson Syndrome

scholarly journals A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome

2016 ◽  
Vol 21 (1) ◽  
Author(s):  
Boutaina Zemrani ◽  
François Cachat ◽  
Olivier Bonny ◽  
Eric Giannoni ◽  
Jacques Durig ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Severe Phenotype ◽  
Pierson Syndrome

scholarly journals Molecular mechanisms determining severity in patients with Pierson syndrome

2020 ◽  
Vol 65 (4) ◽  
pp. 355-362
Author(s):  
Shogo Minamikawa ◽  
Saori Miwa ◽  
Tetsuji Inagaki ◽  
Kei Nishiyama ◽  
Hiroshi Kaito ◽  
...  
Keyword(s):  
Molecular Mechanisms ◽  
Pierson Syndrome
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