✆ Common Calls ✆
Elevated Creatinine

• Determine chronicity

• Assess  for occurrence of proteinuria, hematuria

• Assess for anatomic abnormality with kidney bladder ultrasound (KBUS)

Genetic testing has revealed two heterozygous autosomal recessive mutations in WDR35, which causes cranioectodermal dysplasia (CED, Sensenbrenner syndrome) and is consistent with her features of skeletal dysplasia, craniosynastosis, polysyndactly, and hearing loss. CED is a type of ciliary chondrodysplasia that can be caused by a variety genetic mutations, including WDR35 which encodes a part of the intraflagellar transport (IFT) complex. CED due to WDR35 mutations can be associated with nephronophthisis (PMID 29134781).