ESPN 50th Annual Meeting

ESPN 2017


 
RENAL CYSTS IN THE CONTEXT OF POLYMALFORMATIVE SYNDROMES: RENAL EVOLUTION
TANIA CARBAYO 1 ALBA RUBIO 1 MARIA DEL MAR ESPINO 1 JULIA VARA 1 MIGUEL RASERO 1

1- DOCE DE OCTUBRE HOSPITAL, MADRID
 
Introduction:

Numerous polymalformative syndromes associate renal cysts but there is no proved evidence about the role of these cysts in the renal prognosis so far. The objective of this study is to review the long-term renal function in patients with syndromes and renal cysts.

Material and methods:

A retrospective descriptive study of patients diagnosed with polymalformative syndromes  and renal cysts between 2004-2016.

Results:

We include 14 patients (7 males) with a median age of 9.6 years at the beginning of the study. 11 patients have a specific syndromic diagnosis: 3 Tuberous sclerosis, 2 Beckwith-Wiedemann syndrome, 2 oro-facial-digital syndrome, 2 Townes-Brocks syndrome, 1 COACH syndrome and 1 Dent syndrome with interventricular communication. The three remaining patients had a polymalformative condition without evidence of specific diagnosis.

Both kidney affected were found in 71% of analyzed population, while the rest presented unilateral renal cystic disease. NIne (64%) patients had normal kidneys volumen, 3 (21%) had nephromegaly and 2 (14%) had a reduced kidney size (both present Townes-Brocks syndrome)

Three patients (21%) progressed to chronic kidney disease (CKD): 1 patient with oro-facial-digital syndrome at 15 years of age, 1 patient with Townes-Brocks syndrome presented at 1.5 years old CKD associated with proteinuria and 1 patient with COACH syndrome presented at 2 years old CKD with proteinuria and hypertension.

A patient with tuberous sclerosis  presented isolated hypertension  with  two antihypertensive drugs treatment. The child with Dent syndrome had isolated proteinuria. Only one patient with Townes-Brocks syndrome had recurrent urinary infections.

 

Conclusions:

The presence of renal cysts associated with polymalformative syndrome determines a high risk of CKD. There is variability in the age at the onset of CKD in patients with the same syndrome. If renal involvement is not included in the typical features of the syndrome, the presence of renal cysts does not indicate a worse prognosis.