Coccygeal polypoid eccrine nevus associated with imperforate anus and unilateral
multicystic kidney dysplasia.
Multicystic kidney disease (MCKD) is a developmental disorder of the kidney, in which the normal renal parenchyma is replaced by multiple, non-communicating cysts of varying size.
Bilateral multicystic kidney disease occurs in about 10-20% of cases and is a lethal condition.
It is worth noting that the often-quoted rate of vesicoureteral reflux up to 43% from the Multicystic Kidney Registry is prone to selection bias as only 15% of patients in the registry had a voiding cystogram.[sup.30]
Risk of Wilms' tumour with multicystic kidney disease: a systematic review.
Risk of hypertension with multicystic kidney disease: a systematic review.
Risk ofWilms' tumour with
multicystic kidney disease: a systematic review.
In particular, genitourinary malformations such as dysplastic and
multicystic kidneys, hydronephrosis, hydroureter, ureterocele, duplicated renal collecting system, and absent bladder are common as extensive injury and fibrosis of the uroepithelium can lead to obstructive uropathies [15].
Other conditions that may be associated with DiGeorge are atopic disorders (asthma and eczema) rheumatoid arthritis, autoimmune thyroiditis, renal abnormalities (such as
multicystic kidneys and Vesicoureteral reflux).
Table 2: Type of Anomaly (n=62) Type of Anomaly Frequency Hydrocephalus 16 Anencephaly 14 Meningomyelocele 4 Encephalocele 6 CNS Anomalies, [49 (79%)] Hydroceph+meningomylocele 4 Anenceph+spinabifida 2Isolated Microcephalous 1Anomalies, [57(91.9%)] Acrania 1 Dandy walker malformation 1 Polyscystic kidneys 2 Renal Anomalies, [4 (6.5%)] Dysplastic
Multicystic kidneys 2 Omphalocele 1 GIT Anomalies, [2 (3.2%)] Gastroschisis 1 Skeletal Anomalies, [2 (3.2%)] Achondroplasia 2 Mickel Gruber syndrome 2 Hydroceph, Omphalocele 1Complex Anomalies, [5 (8.1%)] Esophageal atresia, Renal anomlies 1 Facial abnormalities, Talipes, Esophageal 1 atresia, Renal agenesis
The findings included large
multicystic kidneys bilaterally.
For example,
multicystic kidneys erroneously called MCDKs were proven to be examples of GCKD instead.