ESPN 51th Annual Meeting

ESPN 2018


 
Gastric duplication cyst in an infant with Finnish-type congenital nephrotic syndrome: Concurrence or coincidence?
TÜLIN GÜNGÖR FEHIME KARA EROĞLU 1 GÖKÇE GÜR 1 EVRIM KARGIN ÇAKICI 1 FATMA YAZILITAŞ 1 EVRA ÇELIKKAYA 1 FATIH ÖZALTIN 2 MEHMET BÜLBÜL 1

1- DEPARTMENT OF PEDIATRIC NEPHROLOGY, UNIVERSITY OF HEALTH SCIENCES, DR SAMI ULUS MATERNITY AND CHILD HEALTH AND DISEASES TRAINING AND RESEARCH HOSPITAL, ANKARA, TURKEY
2- Department of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
 
Introduction:

 

 

Congenital nephrotic syndrome (CNS) is a rare disorder characterized by massive proteinuria and marked edema manifesting in utero or during the first 3 months of life. CNS can be caused by congenital infections, allo-immune maternal disease or due to genetic defects of podocyte proteins most commonly NPHS1. However, most infants with CNS exhibit a failure to thrive due to insufficient oral intake and/or frequent vomiting. Here we present a case of Finnish-type congenital nephrotic syndrome with feeding problems and abdominal distention diagnosed as gastric-duplication cyst on follow-up.

 

Material and methods:

 

 

Results:

 

A 2-month-old baby girl was admitted to our clinic with abdominal distention and peripheral edema. The urine dipstick test showed 4+ proteinuria and blood testing revealed hypoalbuminaemia indicating nephrotic syndrome. Serologic testing for congenital infections was negative. Renal biopsy showed focal segmental glomerulosclerosis. Her parents are first-degree cousins and genetic tesing showed a novel homozygous mutation in NPHS1 gene (Exon19: c.2663G>A (p.R888K) (Mutation taster: Disease causing; Polyphen2: Probably damaging (score 0.99). After establishing diagnosis, optimal supportive treatment including intravenous albumin, high caloric and protein diet were given along with thyroxine. But on follow-up, the patient had abdominal distention with vomiting and nutrition problems. Repetitive ultrasound examinations revealed gastric duplication cyst which was confirmed at laparatomy and excised completely. Presently, she regained normal weight without complaints.

Conclusions:

 

Feeding problems of CNS are attributed mainly to primary disease but in literature there are case reports of patients with CNS and hypertrophic pyloric stenosis. NPHS1 is also expressed in stomach tissue. Physicians should be aware of this rare extra-renal manifestation or coincidence of this rare disease.