"Multiple cardiac malformation and congenital nephrotic syndrome in"
Case Report Multiple cardiac malformation and congenital nephrotic syndrome in two siblings from Iran M. Maleki, S. H. Ghaffari From Cardiovascular Research Center of Tabriz University of Medical Sciences, Tabriz, Iran. Correspondence: Dr. SH Ghaffari, Assistant Professor of Pediatrics Tel. +98 (411) 373919 Fax. +98 (411) 3344021 E-mail: email@example.com ABSTRACT Congenital nephrotic syndrome is a rare disease in Iran but co morbidity with cardiac malformation in two consecutive male siblings with pulmonic stenosis, closed VSD, severe PS with small ASD and sever Right ventricular hypertrophy and tricuspid regurgitation is reported. (Rawal Med J 2008;33:264-265). Key Words: Nephrotic syndrome, VSD, ASD, pulmonary stenosis. INTRODUCTION Congenital nephritic syndrome (CNS) is defined as proteinuria leading to clinical symptoms soon after birth. An arbitrary age of 3 months has been proposed to separate CNS from infantile Nephrotic Syndrome (NS) which becomes manifest during first year of life.1 Congenital nephrotic syndrome of Finnish type (CNF) originally referred to a severe form of CNS has been typically seen in Finnish newborn.2 Minor functional disorders in the central nervous system and heart are quite common during the course of disease. Most children have muscular Hypotonia, pulmonary stenosis and subaortic stenosis.3 Low thyroxin concentration leads to an increased thyroid stimulating hormone (TSH),4 low serum albumin and post heparin plasma lipoprotein lipase activities and high free fatty acid concentrations leads to dyslipidemia.5 CASE REPORT A 2 months male infant weighting 5100 gram born by cesarean section in 34 wk of gestation presented with edema and respiratory distress. His parents were relatives and had history of a prior baby that died at age of 2 months with CNS due to edema and severe respiratory distress. His torch workup was negative and echocardiography had shown mild to moderate pulmonic stenosis with 32-40 mmHg gradient across the valve and closed VSD. He died after 1 month because of severe edema. This baby came to Emergency department because of edema and respiratory distress. He had no features of torch syndrome like low birth weight, rash, icterus or organomegaly. On examinatopn, he had fair hair (his parents had brown hair), severe oedem, hydrocele, full flanks, sub costal retraction, was pale with wide fontanel (5×6cm), a 3/6 systolic murmur at apex and rales on bases of both lungs. chest radiography was normal. Albumin concentration was 1.1 mg /dl and urine volume in 24h was 200cc (1.4 cc/kg/h). Urine creatinine was 35 mg/24h (7mg /kg/daily) and protein loss was 870 gram /24h (175mg/kg/daily). Serum cholesterol was 240 mg/dl and triglycerides were 450 1 mg/dl. He was anemic with Hemoglobin of 7.2 mg/dl. He had severe sub valvular pulmonic stenosis, RVH with small ASD and TR with gradient across pulmonic valve 95 mmHg on echocardiography. After 10 days treatment with albumin infusion, ibuprofen, captopril, dipyridamole, calcium, penicillin V and nutritional support, he was discharged in good condition. His albumin reached to 2.2 and he had only mild edema without diuretics. Discontinuing of medical therapy against physician’s direction, because of his good general condition 15 days before last admission, was main cause of severe relapse and primary peritonitis with gram negative sepsis and he died in hospital after 7 days of treatment. DISCUSSION Cardiac malformations along steroid resistant nephrotic syndrome due to podocin mutation have been reported in many cases6 but their association with CNS has only been described once previously in a family from a union of first cousin.7 This family consisted of four sisters who developed steroid resistant CNS and had clinical sign of right ventricular outflow tract obstruction. Our 2 month old male infant and his brother that had similar clinical features and same cardiac malformations. Because of severe anemia his murmur and respiratory distress primarily may be related to his anemia and hypoalbuminemia, besides normal chest X ray of both two sibling and no abnormality in their electrocardiogram (ECG). While minor cardiac malformation in one fourth of finish patients with mild functional pulmonary hypertrophy and stenosis and other reports from Malta, severe pulmonary stenosis and subaortic stenosis described before,8 this is the first report of combination of CNS and multiple cardiac malformation in two consecutive sibling in Iran with severe pulmonic stenosis and small ASD along with TR and moderate PS with closed patch VSD in first sibling. Immunosuppressive therapy is not effective and transplantation is the only curative therapy in most cases.1 The goals of treatment are to provide good nutrition, control edema and prevent thrombosis and infections allowing the child to reach a weight and body size for successful kidney transplantation.9 A clear reduction of proeteinuria with and captopril and indomethacin in CNF patients have been reported.10 In conclusion, cardiac malformation and CNS is rare co-morbid finding that we report in two siblings with pulmonary stenosis and ASD. 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