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