ESPN 50th Annual Meeting

ESPN 2017

Eren Soyaltın 1 Belde Kasap Demir 2 Caner Alparslan 1 Seçil Arslansoyu Çamlar 1 Elif Perihan Öncel 1 Özgür Kırbıyık 3 Demet Alaygut 1 Önder Yavaşcan 1 Fatma Mutlubaş 1

1- Izmir Tepecik Training and Research Hospital, Pediatric Nephrology Clinic
2- Izmir Katip Celebi University Pediatric Nephrology Clinic
3- Izmir Tepecik Training and Research Hospital, Medical Genetic Clinic

 Conorenal syndrome (Mainzer-Saldino Syndrome) was reported with cone-shaped epiphyseal plates, retinitis pigmentosa, ataxia and nephronophthisis  leading to chronic renal damage in the later period. In this report, a case with the diagnosis of conorenal syndrome was reported.

Material and methods:

 A 5 year old girl admitted to our hospital with diffuse edema on the eyelids and lower extremities, bilateral basiller crackles and mild ascites. She had growth retardation. Laboratory tests at admission revealed metabolic acidosis and azotemia. The GFR calculated using the Schwartz formula was 8.59 mL/min/1.73 m2. The ultrasound scan showed that both kidneys were small for her age and increase at bilateral renal echogenicty. She had accepted Stage 5 chronic kidney disease and got involved peritoneal dialysis program. Examinations carried for the etiology of renal failure; there wasn’t vesicoureteral reflu or different urological pathologies. Ophthalmologic examination revealed bilateral diffuse choroidal and retinal atrophy, retinitis pigmentosa. During the fallow up period, noticed on traces striking asymmetry in her fingers. When the upper and lower extremity radiographs obtained in, detected symmetrical shortening of the ulna in both forearms, shortening all the phalanx and dilatation of proximal metaphyseal joints. The biopsy required to show the nephronophthisis in the kidney, while directing it to Senior-Loken Syndrome, could not be done due to end-stage renal disease. In genetic screening, the previously reported p.G212R homozygote mutation associated with the disease was detected in the IFT 140 gene. 


 Following a 3-month peritoneal dialysis program, the patient underwent kidney transplantation from her mother.


 Detection of primary disease in patients with end-stage renal insufficiency can be difficult due to the reduced probability of biopsy. However, in the studies to be done for etiology, detection of retinitis pigmentosa findings and detection of cone shaped fingers should suggest conorenal syndrome.