ESPN 51th Annual Meeting

ESPN 2018


 
EPIDERMOLYSIS BULLOSA COMPLICATED WITH NEPHROTIC SYNDROME BECAUSE OF SECONDARY AMYLOIDOSIS
AYSE SEDA PINARBASI 1 BURCU DALDABAN 2 NESLIHAN GUNAY 1 SUMEYRA CICEK 3 MUAMMER HAKAN POYRAZOGLU 1 HULYA AKGUN 4 ISMAIL DURSUN 1 RUHAN DUSUNSEL 1

1- Erciyes University Medical Faculty Pediatric Nephrology
2- Erciyes University Medical Faculty Pediatrics
3- Erciyes University Medical Faculty Pediatric Rheumatology
4- Erciyes University Medical Faculty Pathology
 
Introduction:

Epidermolysis bullosa (EB) encompasses a clinically and genetically heterogeneous group of rare inherited disorders characterized by marked mechanical fragility of epithelial tissues with blistering and erosions following minor trauma. Amyloidosis is very rare and one of the most important complication of EB mostly seen in recessive dystrophic EB patients (RDEB) and can be involved kidney, bowel, liver and also respiratory system. Here we will present a child with renal amyloidosis due to RDEB.

Material and methods:

A 6.5 year old boy was diagnosed soon after birth with epidermolysis bullosa and followed-up at another center by anemia for 6 months. In his follow up, hypoalbuminemia and proteinuria was detected so he was referred to our center. On admission, he had nephrotic syndrome with hypoalbuminemia and nephrotic range proteinuria. KUB ultrasound was normal. Although he did not have any symptoms of auto-inflammatory diseases, he had positive family history for FMF. Genetic testing for FMF was negative. The kidney biopsy was remarkable for amyloidosis with Congo red staining and amyloid fibrils was seen on EM. He was given colchicum. He was not good candidate for biologic agent because of his underlying disease, RDEB.

Results:

.......

Conclusions:

Patients with RDEB have very low quality of life due to the complications of the disease and the disease itself. Infections, dental problems, oral ulcer, esophageal stenosis, contractures, Pseudo-syndactyly are some of them. But the kidney involvement is the most common life threatening complication after skin cancers. So, we think that children with RDEB should be screened in terms of kidney involvement with urinalysis.