Cystic renal diseases

The progress of genetics and ultrasound allowed to clarify the classification of cystic diseases of the kidney in children. 

-        recessive polycystic disease 

-        dominant polycystic disease 

-        nephronophthisis, Joubert syndrome medullary cystic disease

-        Bardet-Biedl syndrome 

-        glomerulocystic disease

-        Bourneville tuberous sclerosis 

-        von-Hippel-Lindau disease 

-        renal disease in a context of malformation 

-        multicystic dysplasia - renal dysplasia (MRD)

-        unilateral cystic dystrophy 

-        Cacci-Ricci disease which is sometimes part of Rabson-Mendenhall syndrome 

-        acquired cyst in case of chronic renal failure hemodialysis


These diseases are described in detail elsewhere on this site. 
The main malformation syndromes associated with multicystic renal dysplasia (MRD) are reported in the table below:


name

prevalence / transmission

gene(s)

glutaric aciduria II

MRD, cysts


chromosomic anomalies

MRD

trisomy 3q, 9, 13, 18, 21 ; Turner

Beckwitt-Wiedemann

MRD, nephroblastoma


Cumming

MRD


Denys-Drash

MRD, nephroblastoma

? / auto recessive

WT1 (11p13)

Di George

MRD


Jeune asphyxiating thoracic dysplasia

? / auto recessive

? (15q13)

Ivemark type II

MRD, cysts

? / auto recessive


NEK8 (17q11.2) ; NPHP3 (3q22)

Kallmann-De Morsier

MRD, hypoplasia, agenesis


Laurence-Moon-Bardet-Biedl


1/50.000 / auto recessive

BBS1 (11q13); BBS2 (16q21) ; BBS3 (3p13) ; BBS4 (15q22) ; BBS5 (2q31)

glomerulocystic disease

MRD, cysts, hypoplasia, en fer à cheval kidney

TCF2 (17q11.2-q21.1)

Meckel-Gruber

MRD

1/9.000  /auto recessive

MKS1 (17q21-24 ; MKS-2 (11q13) ; MKS-3

Melnick-Fraser

branchio-oto-renal (BOR)

? / auto dominant

EYA1 (8q13.3)

nephronophtisis

cysts

NPH1 à 9

MURCS

MRD, cysts


Oro-facio-digital 

type 1

? / X-linked

OFD1 (Xp22.3)

Perlman

MRD, nephroblastoma


Polythelia (surnumerary nipples)

0,2 to 6 % /  unknown

?

Simpson-Golabi-Behmel

MRD, nephroblastoma


Smith-Lemli-Opiatz

cysts, MRD


Waardenburg

MRD


Walker-Warburg

MRD


Zellweger

MRD

? / auto recessive

PEX1 (7q21) ; PEX2 (8q21) ; PEX5 (12p13) ;  PEX6 (6p21) ; PEX12


Anesthetic implications:

these diseases are dominated by their evolution to chronic renal failure and, for some, associated neurological and metabolic issues. Apart from the problems, vascular access or in connection with the deterioration of their general state, and, finally, kidney transplantation, these conditions do not require any special surgical treatment nor anesthetic care. These children often have a tendency to a significant Na loss of tubular origin: it is therefore important to ensure a sufficient intake of NaCl during the perioperative period while avoiding a hypervolemia.


References : 

-        Avni F. 
Renal cystic diseases in children: new concepts. 
Pediatr Radiol 2010; 40: 939-46.


Updated: September 2019