ESPU Congress 2018 - Abstract Book

11–14 APRIL, 2018, HELSINKI, FINLAND

14:10–14:20

Discussion

14:20–14:22

S2-6 (CP)

CONGENITAL RENAL FAILURE, DSD, AND POSTERIOR

CLOACA

Mircia-Aurel ARDELEAN

, Thomas BOEMERS

, Christa SCHIMKE

and

Roman METZGER

1) Paracelsus Medical University, Clinic of Paediatric Surgery, Salzburg, AUSTRIA - 2) Children Hospital, Pediatric

Surgery and Urology, Cologne, GERMANY

PURPOSE

We report a-5-years old girl with 46XX-DSD with posterior cloaca and congenital end-stage renal

failure.

MATERIAL AND METHODS

The prenatal ultrasound detected a phallic structure, megacystis, hyperechogenic small kidneys

and oligo/anhydramnion. Intra-amniotic infusion were necessary to save the fetus, born at 34-weeks

with pulmonary hypertension, distension of the lower abdomen, and DSD with a pseudophallus of

4.5 cm. The anus appeared in ante-position but with normal caliber. There were a urogenital sinus

deviated posteriorly opened in anus and an accessory, phallic urethra. Spontaneous urination did

not occur and urethral- and sinus catheterization failed.

We performed a vesicostomy.

RESULTS

Investigations showed a nonfunctional left kidney, a small echogenic right kidney with an ectopic

implantation of his refluxive ureter on the dome of the bladder. Both, the phallic urethra and the

urogenital sinus were stenotic and connected to a three-compartment urinary bladder. Other associ-

ated pathologies included left hemiuterus, and vaginal atresia.

CAH and hnf1ß- wt-mutations where genetically excluded, but by NGS a LHX1 mutation was identi-

fied, which could be associated with the above findings but hasn't been described before.

The level of creatinine was 3.8 mg/dl in the 5-th day of live: peritoneal dialysis was performed for

3 weeks, thereafter the patient remains symptoms free against ESRD: CKD 5, estimated GFR-

cystatin-C 15 mL/min/1,73 m2. With 19 month we accomplished the bladder neck closure with

continent urinary diversion and feminizing genitoplasty.

CONCLUSIONS

Transplantation of a living-donor kidney at 52-month of age was successful.

The transplanted kidney has a normal function and the patient is with CIC socially continent.