Townes–Brocks syndrome with adult renal impairment in a Chinese family: A case report

Table 1 Abnormal laboratory data at admission

Parameters	Proband	Mother	Reference range
Routine blood tests
RBC, 1012/L	2.26		4.3-5.8
HGB, g/L	70	91	115-150/130-175
Routine urine tests
UP	3+	1+	Negative
Urinary occult blood	1+		Negative
24-h UP, g/d	0.86		0-0.12
UP/urinary creatinine, g/g	1.42	0.23
Serum chemistry
Creatinine, μmol/L	610.5	309	45-105
Uric acid, μmol/L	486.0		140-420
Cystatin-C, mg/L	5.22	3.62	0-1.16
PTH, pg/mL	816.1	258.0	12-65
Albumin, g/L	34.4	39.6	40-50
Calcium, mmol/L	1.88		2.02-2.6
Phosphorus, mmol/L	1.39	0.74	0.9-1.34
Thyroxine (T4), nmol/L	58.42		62.68-150.84
Serum iron, μmol/L	5.80		10.62-29.54
ESR, mm/h	57.0		0-15
CPR, mg/L	59.2		0-8
Immunology
IgG, g/L	3.80		7-15
IgA, g/L	0.23		0.7-4.0
C3, g/L	0.69	0.69	0.9-2.1
Lambda, mg/dL	191.0		313-723
Kappa, mg/dL	296.0		629-1350

CPR: C-reactive protein; ESR: Erythrocyte sedimentation rate; HGB: Hemoglobin; RBC: Red blood cell; PTH: Parathyroid hormone; UP: Urinary protein.