Pierson Syndrome: A Novel Cause of Congenital Nephrotic Syndrome

Abstract

In this report, we describe a newborn infant who presented with congenital nephrotic syndrome and renal insufficiency, as well as bilateral microcoria. This constellation of findings is a hallmark of Pierson syndrome, a newly recognized genetic disorder that is caused by a deficiency of beta2 laminin in the basement membrane. Our patient demonstrated classic histopathologic findings of Pierson syndrome on renal biopsy, including absence of beta2 laminin on immunofluorescent staining, and genetic testing confirmed the diagnosis. We conclude that Pierson syndrome should be included in the differential diagnosis for congenital nephrotic syndrome, especially in patients with ocular abnormalities.

Forced expression of laminin β1 in podocytes prevents nephrotic syndrome in mice lacking laminin β2, a model for Pierson syndrome

“…We used a renal biopsy from a 3-mo-old Pierson patient lacking Lamβ2 (20,21) to determine whether the loss of Lamβ2 in humans leads to the increased Lamβ1 observed in the GBM of Lamb2 −/− mice (11). Indeed, Lamβ1, which is in the mesangial matrix of normal glomeruli, was detected in the GBM of the patient (Fig.…”

Ascites of Great Abundance Revealing a Nephrotic Congenital Syndrome at the University Teaching Hospital of Bouaké: About a Case

“…In secondary cases, the literature most commonly reports perinatal infection (syphilis, hepatitis B, hepatitis C, rubella) and rarely systemic systemic lupus erythematosus [4] [13]. These main infections sought in the infant KI have all been reversed.…”

“…This makes a secondary origin unlikely and allows considering a primary CNS. In primary forms, there is a genetic abnormality that may or may not be associated with a variety of malformative syndromes such as Denys Drash syndrome (CNS associated with sexual ambiguity) [14], Pierson's syndrome (CNS associated with a microcircle) [4] and Galloway syndrome (CNS associated with microcephaly and hiatal hernia) [15]. The Finnish-type CNS remains the most common of the primary NCS and is found mainly in Finland with an incidence of 1.2 per 10,000 live births.…”

“…When NS occurs between birth and the age of 3 months, it is called congenital nephrotic syndrome (CNS). It is a rare condition, accounting for 3% -13% of the child's NS, with a poor prognosis [4] [5]. If edema with a swelling of the face is the usual way of discovering nephrotic syndrome, the rarity of this pathology in children under 3 months is a real diagnostic problem [6] [7].…”

Genetic Disorders of Glomerular Basement Membranes

“…Laminin-521 containing β 2 -laminin is the major laminin in the mature GBM [22] and patients with Pierson syndrome lack GBM β 2 -laminin immunoreactivity [23]. GBM ultrastructure in Pierson syndrome is variable with reports of normal ultrastructure, diffuse thinning and irregular thickening with lamellation [17,18,23,24].…”