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      Pierson Syndrome Associated with Hypothyroidism and Septic Shock

      case-report

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          Abstract

          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.

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          Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.

          André Reis, Regina Fenski, Valerie Schumacher … (2004)
          Congenital nephrotic syndrome (CNS) is clinically and genetically heterogeneous, with mutations in WT1, NPHS1 and NPHS2 accounting for part of cases. We recently delineated a new autosomal recessive entity comprising CNS with diffuse mesangial sclerosis and distinct ocular anomalies with microcoria as the leading clinical feature (Pierson syndrome). On the basis of homozygosity mapping to markers on chromosome 3p14-p22, we identified homozygous or compound heterozygous mutations of LAMB2 in patients from five unrelated families. Most disease-associated alleles were truncating mutations. Using immunohistochemistry and western blotting we could demonstrate that the respective LAMB2 mutations lead to loss of laminin beta2 expression in kidney and other tissues studied. Laminin beta2 is known to be abundantly expressed in the glomerular basement membrane (GBM) where it is thought to play a key role in anchoring as well as differentiation of podocyte foot processes. Lamb2 knockout mice were reported to exhibit congenital nephrosis in association with anomalies of retina and neuromuscular junctions. By studying ocular laminin beta2 expression in unaffected controls, we detected the strongest expression in the intraocular muscles corresponding well to the characteristic hypoplasia of ciliary and pupillary muscles observed in patients. Moreover, we present first clinical evidence of severe impairment of vision and neurodevelopment due to LAMB2 defects. Our current data suggest that human laminin beta2 deficiency is consistently and specifically associated with this particular oculorenal syndrome. In addition, components of the molecular interface between GBM and podocyte foot processes come in the focus as potential candidates for isolated and syndromic CNS.
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            Complications of nephrotic syndrome

            Se Park, Jae Il Shin (2011)
            Nephrotic syndrome (NS) is one of the most common glomerular diseases that affect children. Renal histology reveals the presence of minimal change nephrotic syndrome (MCNS) in more than 80% of these patients. Most patients with MCNS have favorable outcomes without complications. However, a few of these children have lesions of focal segmental glomerulosclerosis, suffer from severe and prolonged proteinuria, and are at high risk for complications. Complications of NS are divided into two categories: disease-associated and drug-related complications. Disease-associated complications include infections (e.g., peritonitis, sepsis, cellulitis, and chicken pox), thromboembolism (e.g., venous thromboembolism and pulmonary embolism), hypovolemic crisis (e.g., abdominal pain, tachycardia, and hypotension), cardiovascular problems (e.g., hyperlipidemia), acute renal failure, anemia, and others (e.g., hypothyroidism, hypocalcemia, bone disease, and intussusception). The main pathomechanism of disease-associated complications originates from the large loss of plasma proteins in the urine of nephrotic children. The majority of children with MCNS who respond to treatment with corticosteroids or cytotoxic agents have smaller and milder complications than those with steroid-resistant NS. Corticosteroids, alkylating agents, cyclosporin A, and mycophenolate mofetil have often been used to treat NS, and these drugs have treatment-related complications. Early detection and appropriate treatment of these complications will improve outcomes for patients with NS.
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              Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome.

              Aleksandra Zurowska, Joachim Weis, André Reis … (2007)
              Pierson syndrome is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct eye abnormalities with microcoria reported as the most prominent clinical feature. LAMB2 mutations leading to lack of laminin beta2 were identified as the molecular cause underlying Pierson syndrome. Although LAMB2 is known to be expressed in the neuromuscular system, and defects of the neuromuscular junctions had been found in laminin beta2-deficient mice, no consistent neurological phenotype has been described clinically in murine or human laminin beta2-deficiency before. This is likely due to the early lethality from renal failure. 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. Severe muscular hypotonia, psychomotor retardation, and blindness were present in three patients harboring truncating mutations on both LAMB2 alleles. These symptoms were not attributable to complications of chronic renal failure, thus representing a primary feature of the genetic disorder. Alterations in skeletal muscle tissue from one case were compatible with a chronic denervating process. One affected girl, however, exhibited a milder course of renal disease, normal development, and preserved vision, presumably owing to some residual LAMB2 function. 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). This is an important issue in the counseling of parents of an affected newborn or infant. (c) 2007 Wiley-Liss, Inc.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Sultan Qaboos Univ Med J
                Journal ID (iso-abbrev): Sultan Qaboos Univ Med J
                Title: Sultan Qaboos University Medical Journal
                Publisher: Sultan Qaboos University Medical Journal, College of Medicine & Health Sciences
                ISSN (Print): 2075-051X
                ISSN (Electronic): 2075-0528
                Publication date (Print): November 2020
                Publication date (Electronic): 21 December 2020
                Volume: 20
                Issue: 4
                Pages: e385-e389
                Affiliations
                [1 ]Department of Pediatric Oncology, The Indus Hospital, Karachi, Pakistan
                [2 ]Department of Pediatrics, Dow Medical College, Dow University of Health Sciences, Karachi, Pakistan
                [3 ]Department of Pediatrics, Dr. Ruth K. M Pfau Civil Hospital, Karachi, Pakistan
                Author notes
                [* ]Corresponding Author’s e-mail: meher59@ 123456hotmail.com
                Article
                Publisher ID: squmj2011-e385-389
                DOI: 10.18295/squmj.2020.20.04.017
                PMC ID: 7757929
                SO-VID: 48e22639-63a0-457d-9135-23305af0624b
                Copyright © © Copyright 2020, Sultan Qaboos University Medical Journal, All Rights Reserved
                License:

                This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License.

                History
                Date received : 09 December 2019
                Date revision requested : 26 March 2020
                Date revision received : 25 April 2020
                Date accepted : 20 May 2020
                Categories
                Subject: Case Report

                Keywords: pierson syndrome,microcoria and congenital nephrotic syndrome,congenital microcoria,hypothyroidism,septic shock,case report,pakistan
                Data availability:
                Keywords: pierson syndrome, microcoria and congenital nephrotic syndrome, congenital microcoria, hypothyroidism, septic shock, case report, pakistan

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