[MIM 194 080]

(Drash syndrome,  Wilms tumor - pseudohermaphrodism)

Prevalence: < 1/1.106.  Polymalformative syndrome of genetic origin caused by an usually 'de novo' mutation, of the WT1 gene, (11p13)  combining 

-         a nephropathy (mesangial sclerosis) with early corticoresistant nephrotic syndrome (before the age of 3 months), evolving to terminal renal failure in about 1 to 4 years (not relapsing after renal transplantation)

-         a risk of gonadoblastoma

-         a sexual ambiguity (male pseudohermaphrodism with a 46 XY karyotype); hypospadias, cryptorchidism

-         a high risk of Wilms tumor (nephroblastoma), often bilateral, before 3 years of age.

A few cases of congenital diaphragmatic hernia have been reported.

Treatment: IV albumin supplements to compensate for the massive proteinuria, binephrectomy and removal of the gonads in prevention of the tumor risk, kidney transplantation in childhood.

Anesthetic implications: 

depending on the stage of the disease,

-         management of a nephrotic syndrome: hypoproteinemia, edema, infectious and thrombotic risk, sometimes subclinical hypothyroidism

-        management for a child with an abdominal tumor: delayed gastric emptying, systemic hypertension in case of compression of a renal artery, compression of the inferior vena cava

-         management for end stage renal disease

-        management of a binephrectomized child: management of the intakes, dialysis, risk of refractory arterial hypotension

-         management for pediatric renal transplantation: volemia

-         management for a transplanted kidney: immunosuppression

References:

-         Adonis-Koffy LY, Assé KV, Kouassi F et al. 
Le syndrome de Denys-Drash, une cause rare de syndrome néphrotique : à propos d’un cas en milieu pédiatrique tropical. 
Clinics in Mother & Child Health 2011 ; 8 : doi : 10.4303/cmch :C101205

-         Enerman B, Mekahli D, Audrezet M-P, Lerut E, Van Damme-Lombaerts R, Van den Heuvel L, Levtchenko E. 
An unusual presentation of Denys-Drash syndrome due to bigenic disease. 
Pediatrics 2014 ; 133 : e252-8

-         Smith SC, Chang B, Fleming LB. 
A 3-year-old with a renal mass and large cystic bladder mass. 
JAAPA 2016; 29: 54-6.  

-        Hassinger AB, Garimella S.
Refractory hypotension after bilateral nephrectomies in a Denys–Drash patient with phenylketonuria.
Pediatric Nephrology 2013 ; 28 : 345-8.

Updated: April 2021