Cystic Kidneys in a Patient with Craniofacial Abnormalities.

Abstract

A 30-year-old woman previously diagnosed with Treacher Collins syndrome presented for operative evaluation of craniofacial abnormalities including microcephaly, cleft palate, nasal stenosis with hypoplasia of the alae, atrophic mandible, lobulated tongue, and ankyloglossia. Preoperative laboratory evaluation revealed BUN of 88 mg/dl, serum creatinine of 6.8 mg/dl (eGFR, 7 ml/min per 1.73 m2), calcium of 5.7 mg/dl, albumin of 3.9 g/dl, intact parathyroid hormone of 976 pg/ml, and hemoglobin of 9 g/dl. Urinalysis was notable for 1+ proteinuria. There was no reported family history of kidney disease, although detailed records were not available. In light of her kidney function, she was admitted for further evaluation. Physical examination revealed a multilobar tongue (Figure 1A …