Indian J Pediatr DOI 10.1007/s12098-014-1507-3

SCIENTIFIC LETTER

Pierson Syndrome - A Rare Cause of Congenital Nephrotic Syndrome Arul Premanand Lionel & Leni Kumar Joseph & Anna Simon

Received: 22 January 2014 / Accepted: 5 June 2014 # Dr. K C Chaudhuri Foundation 2014

To the Editor: Pierson syndrome is a rare genetic cause of congenital nephrotic syndrome (CNS) with renal insufficiency and ocular anomaly, typically microcoria. We are reporting a boy, who presented on the 30th postnatal day with progressive abdominal distension and swelling of lower limbs and genitalia. He was born at term with birth weight of 2 kg. Family history was negative for any heritable renal or ophthalmic disorders. He had anasarca, ascites and bilateral microcoria with hypopigmented iris (Fig. 1). Other systems were normal. Investigations showed 4+proteinuria on dipstick, severe hypoalbuminemia (0.8 g %), renal insufficiency [Creatinine 0.9 mg %, Creatinine clearance 17.6 ml/min/1.73sq.m BSA]; hyponatremia (110 meq/L), hyperphosphatemia (7.4 mg %), acidosis (HCO3:7 meq/L), hypercholesterolemia (188 mg%) and very high urine protein/creatinine ratio (108.5),

Fig. 1 Baby with anasarca (a), microcoria with hypopigmented iris (b)

A. P. Lionel (*) Department of Pediatrics Unit 1, Christian Medical College and Hospital, Vellore, Tamil Nadu 632004, India e-mail: [email protected] L. K. Joseph Department of Pediatric Nephrology and Pediatrics Unit 2, Christian Medical College and Hospital, Vellore, Tamil Nadu, India A. Simon Department of Pediatrics, Christian Medical College and Hospital, Vellore, Tamil Nadu, India

confirmatory of CNS. Ultrasonogram showed normal kidneys. Screening for intrauterine infections was negative. In view of CNS with ocular anomalies, Pierson syndrome was considered. Ophthalmic findings were papillary constriction persisting despite using mydriatics, hypochromic iris and mild keratoconus. The baby was treated for the clinical conditions of anasarca, hyponatremia and acidosis. We considered the feasibility of renal biopsy and genetic analysis but parents decided against further investigations or treatment and got discharged at request. In 1963, Pierson reported two siblings with congenital nephrotic syndrome, microcoria and renal failure rapidly progressing to death [1]. The most characteristic ocular anomaly was microcoria, additional abnormalities include posterior embryotoxon, megalocornea, iris hypoplasia, cataract, abnormal lens shape, posterior lenticonus, persistent fetal vascula-

Indian J Pediatr

ture, retinal detachment, variable axial lengths, and glaucoma. Mutations in the lamininβ2 gene (LAMB2) were detected in affected individuals and ocular manifestations are due to the involvement of LAMB2 in the eye [2]. Mutations predicting complete loss of function are associated with the classical features of Pierson syndrome, while those with presumed residual LAMB2 function may display milder and more variable phenotypes [3]. The histopathological findings are diffuse mesangial sclerosis, accompanied by crescent formation and electronmicroscopy shows thin GBM with effacement of foot process and crowding of prominent podocytes [4] To the best of our knowledge, Pierson syndrome has not been reported from India yet. This brief report is intended to increase awareness of this condition. Pierson syndrome should be considered in the differential diagnosis of CNS, if associated ocular anomalies are noted. In view of the phenotypic variability of Pierson syndrome, infants found to have any of the ocular anomalies mentioned above should be screened for proteinuria.

Conflict of Interest None. Source of Funding None.

References 1. Pierson M, Cordier J, Hervouuet F, Rauber G. An unusual congenital and familial congenital malformative combination involving the eye and kidney. J Genet Hum. 1963;12:184–213. 2. Zenker M, Aigner T, Wendler O, Tralau T, Müntefering H, Fenski R, et al. Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet. 2004;13:2625–32. 3. Matejas V, Al-Gazali L, Zenker M. A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2. Nephrol Dial Transplant. 2006;21:3283–6. 4. VanDeVoorde R, Witte D, Kogan J, Goebel J. Pierson syndrome: a novel cause of congenital nephrotic syndrome. Pediatrics. 2006;118: e501–5

Pierson syndrome - a rare cause of congenital nephrotic syndrome.

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