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.

scholarly journals Laminin-521 Protein Therapy for Glomerular Basement Membrane and Podocyte Abnormalities in a Model of Pierson Syndrome

2018 ◽  
Vol 29 (5) ◽  
pp. 1426-1436 ◽  
Author(s):  
Meei-Hua Lin ◽  
Joseph B. Miller ◽  
Yamato Kikkawa ◽  
Hani Y. Suleiman ◽  
Karl Tryggvason ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Congenital Nephrotic Syndrome ◽  
Super Resolution ◽  
Diffuse Mesangial Sclerosis ◽  
Protein Therapy ◽  
Correct Orientation ◽  
Pierson Syndrome ◽  
Foot Process ◽  
And Function

Background Laminin α5β2γ1 (LM-521) is a major component of the GBM. Mutations in LAMB2 that prevent LM-521 synthesis and/or secretion cause Pierson syndrome, a rare congenital nephrotic syndrome with diffuse mesangial sclerosis and ocular and neurologic defects. Because the GBM is uniquely accessible to plasma, which permeates endothelial cell fenestrae, we hypothesized that intravenous delivery of LM-521 could replace the missing LM-521 in the GBM of Lamb2 mutant mice and restore glomerular permselectivity.Methods We injected human LM-521 (hLM-521), a macromolecule of approximately 800 kD, into the retro-orbital sinus of Lamb2−/− pups daily. Deposition of hLM-521 into the GBM was investigated by fluorescence microscopy. We assayed the effects of hLM-521 on glomerular permselectivity by urinalysis and the effects on podocytes by desmin immunostaining and ultrastructural analysis of podocyte architecture.Results Injected hLM-521 rapidly and stably accumulated in the GBM of all glomeruli. Super-resolution imaging showed that hLM-521 accumulated in the correct orientation in the GBM, primarily on the endothelial aspect. Treatment with hLM-521 greatly reduced the expression of the podocyte injury marker desmin and attenuated the foot process effacement observed in untreated pups. Moreover, treatment with hLM-521 delayed the onset of proteinuria but did not prevent nephrotic syndrome, perhaps due to its absence from the podocyte aspect of the GBM.Conclusions These studies show that GBM composition and function can be altered in vivovia vascular delivery of even very large proteins, which may advance therapeutic options for patients with abnormal GBM composition, whether genetic or acquired.

Pierson Syndrome: A Novel Cause of Congenital Nephrotic Syndrome

PEDIATRICS ◽  
2006 ◽  
Vol 118 (2) ◽  
pp. e501-e505 ◽  
Author(s):  
R. VanDeVoorde ◽  
D. Witte ◽  
J. Kogan ◽  
J. Goebel
Keyword(s):  
Nephrotic Syndrome ◽  
Congenital Nephrotic Syndrome ◽  
Pierson Syndrome

Five-Year Follow-Up and Successful Kidney Transplantation in a Girl with a Severe Phenotype of Pierson Syndrome

Nephron ◽  
2021 ◽  
pp. 1-6
Author(s):  
Aleksandra Sobieszczańska-Droździel ◽  
Ryszard Grenda ◽  
Beata Stefania Lipska-Ziętkiewicz ◽  
Agnieszka Korolczuk ◽  
Wioletta Jarmużek ◽  
...  
Keyword(s):  
Kidney Transplantation ◽  
Neuromuscular Junctions ◽  
Fatal Outcome ◽  
Congenital Nephrotic Syndrome ◽  
Severe Phenotype ◽  
Neurodevelopmental Delay ◽  
Secondary Hypothyroidism ◽  
Gastrointestinal Problems ◽  
Pierson Syndrome

Pierson syndrome (PIERSS) is a rare autosomal recessive disorder characterized by the combination of congenital nephrotic syndrome (CNS) and extrarenal symptoms including ocular malformations and neurodevelopmental deficits. PIERSS is caused by biallelic pathogenic variants in the LAMB2 gene leading to the defects of β2-laminin, the protein mainly expressed in the glomerular basement membrane, ocular structures, and neuromuscular junctions. Severe complications of PIERSS lead to the fatal outcome in early childhood in majority of the cases. We report a case of 5-year-old girl with severe phenotype of PIERSS caused by biallelic functional null variants of the LAMB2 gene. Due to consequences of CNS, the patient required bilateral nephrectomy and peritoneal dialysis since early infancy. The course was additionally complicated by tubulopathy, life-threatening infections, severe hypertension, erythropoietin-resistant anemia, generalized muscular hypotonia, neurogenic bladder, profound neurodevelopmental delay, epilepsy, gastrointestinal problems, secondary hypothyroidism, and necessity of repeated ocular surgery due to microcoria, cataract, and nystagmus. Due to multidisciplinary efforts, at the age of 4 years, the kidney transplantation was possible. Currently, the renal graft has an excellent function; however, the girl presents severe neurodevelopmental delay. The report presents a unique long-term follow-up of severe PIERSS with a few new phenotypical findings. It highlights the clinical problems and challenges in management of this rare condition.

scholarly journals Treatment of childhood nephrotic syndrome.

1992 ◽  
Vol 3 (4) ◽  
pp. 889-894
Author(s):  
S A Mendoza ◽  
B M Tune
Keyword(s):  
Nephrotic Syndrome ◽  
Focal Segmental Glomerulosclerosis ◽  
Alkylating Agent ◽  
Controlled Trial ◽  
Current Data ◽  
High Dose ◽  
Converting Enzyme Inhibitors ◽  
Childhood Nephrotic Syndrome ◽  
Segmental Glomerulosclerosis ◽  
Daily Prednisone

This review examines selected aspects of the treatment of the nephrotic syndrome in children. Particular attention has been paid to two groups of nephrotic children. First, children with steroid-responsive nephrotic syndrome are discussed. Recently, a series of controlled studies have provided important information regarding the optimal duration of steroid therapy. Initial episodes of the nephrotic syndrome are best treated with "long" courses of prednisone therapy (6 wk of high-dose daily prednisone followed by 6 wk of alternate-day prednisone). In contrast, relapses do as well with "short" courses (about 2 wk of daily prednisone and 2 wk of alternate-day therapy). Some children who are steroid responsive require high doses of prednisone to remain in remission. These patients may require alkylating agent therapy. The most common cause of steroid-resistant nephrotic syndrome is focal segmental glomerulosclerosis. Over the past 10 yr, these patients have been treated with an intensive protocol involving multiple infusions of high-dose methylprednisolone and, in many cases, oral alkylating agent therapy. Current experience with this treatment is presented. The protocol appears to improve the outcome in children with focal segmental glomerulosclerosis, although it is believed that it is essential that these observations be confirmed by a controlled trial. There is also interest in the use of angiotensin-converting enzyme inhibitors and cyclosporine in the treatment of childhood nephrotic syndrome. The experience with these agents is briefly reviewed, but the current data are inadequate to indicate their role(s) in this condition.

scholarly journals Pierson Syndrome in an Infant With Congenital Nephrotic Syndrome and Unique Brain Pathology

2020 ◽  
Vol 5 (12) ◽  
pp. 2371-2374
Author(s):  
Wesley Hiser ◽  
Vani Thirumala ◽  
Jason Wang ◽  
Robert Gillespie ◽  
Badreldin Bedri ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Congenital Nephrotic Syndrome ◽  
Brain Pathology ◽  
Pierson Syndrome

scholarly journals Pathogenicity of a Human Laminin β2 Mutation Revealed in Models of Alport Syndrome

2017 ◽  
Vol 29 (3) ◽  
pp. 949-960 ◽  
Author(s):  
Steven D. Funk ◽  
Raymond H. Bayer ◽  
Andrew F. Malone ◽  
Karen K. McKee ◽  
Peter D. Yurchenco ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Basement Membrane ◽  
Alport Syndrome ◽  
Late Onset ◽  
Congenital Nephrotic Syndrome ◽  
Model Organisms ◽  
Missense Mutations ◽  
Amino Terminal ◽  
Wide Range ◽  
Pierson Syndrome

Pierson syndrome is a congenital nephrotic syndrome with eye and neurologic defects caused by mutations in laminin β2 (LAMB2), a major component of the glomerular basement membrane (GBM). Pathogenic missense mutations in human LAMB2 cluster in or near the laminin amino-terminal (LN) domain, a domain required for extracellular polymerization of laminin trimers and basement membrane scaffolding. Here, we investigated an LN domain missense mutation, LAMB2-S80R, which was discovered in a patient with Pierson syndrome and unusually late onset of proteinuria. Biochemical data indicated that this mutation impairs laminin polymerization, which we hypothesized to be the cause of the patient’s nephrotic syndrome. Testing this hypothesis in genetically altered mice showed that the corresponding amino acid change (LAMB2-S83R) alone is not pathogenic. However, expression of LAMB2-S83R significantly increased the rate of progression to kidney failure in a Col4a3−/− mouse model of autosomal recessive Alport syndrome and increased proteinuria in Col4a5+/− females that exhibit a mild form of X-linked Alport syndrome due to mosaic deposition of collagen α3α4α5(IV) in the GBM. Collectively, these data show the pathogenicity of LAMB2-S80R and provide the first evidence of genetic modification of Alport phenotypes by variation in another GBM component. This finding could help explain the wide range of Alport syndrome onset and severity observed in patients with Alport syndrome, even for family members who share the same COL4 mutation. Our results also show the complexities of using model organisms to investigate genetic variants suspected of being pathogenic in humans.

Pierson Syndrome - A Rare Cause of Congenital Nephrotic Syndrome

2014 ◽  
Vol 81 (12) ◽  
pp. 1416-1417 ◽  
Author(s):  
Arul Premanand Lionel ◽  
Leni Kumar Joseph ◽  
Anna Simon
Keyword(s):  
Nephrotic Syndrome ◽  
Congenital Nephrotic Syndrome ◽  
Pierson Syndrome

The glycosaminoglycan content of renal basement membranes in the congenital nephrotic syndrome of the Finnish type

1992 ◽  
Vol 6 (1) ◽  
pp. 10-15 ◽  
Author(s):  
L. P. W. J. Van den Heuvel ◽  
J. Van den Born ◽  
H. Jalanko ◽  
C. H. Schröder ◽  
J. H. Veerkamp ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Congenital Nephrotic Syndrome ◽  
Basement Membranes ◽  
Finnish Type

ITI with high-dose FIX and combined immunosuppressive therapy in a patient with severe haemophilia B and inhibitor

2009 ◽  
Vol 29 (02) ◽  
pp. 155-157 ◽  
Author(s):  
H. Hauch ◽  
J. Rischewski ◽  
U. Kordes ◽  
J. Schneppenheim ◽  
R. Schneppenheim ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Immunosuppressive Agents ◽  
Tolerance Induction ◽  
Intravenous Immunoglobulins ◽  
Factor Ix ◽  
High Dose ◽  
Allergic Reactions ◽  
Success Rates ◽  
Serious Infections ◽  
History Of

SummaryInhibitor development is a rare but serious event in hemophilia B patients. Management is hampered by the frequent occurrence of allergic reactions to factor IX, low success rates of current inhibitor elimination protocols and the risk of development of nephrotic syndrome. Single cases of immune tolerance induction (ITI) including immunosuppressive agents like mycophenolat mofetil (MMF) or rituximab have been reported. We present a case of successful inhibitor elimination with a combined immune-modulating therapy and high-dose factor IX (FIX). This boy had developed a FIX inhibitor at the age of 5 years and had a history of allergic reactions to FIX and to FEIBA→. Under on-demand treatment with recombinant activated FVII the inhibitor became undetectable but the boy suffered from multiple joint and muscle bleeds. At the age of 11.5 years ITI was attempted with a combination of rituximab, MMF, dexamethasone, intravenous immunoglobulins and high-dose FIX. The inhibitor did not reappear and FIX half-life normalized. No allergic reaction, no signs of nephrotic syndrome and no serious infections were observed.

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