The objective of the current study was to determine the best index of residual glomerular filtration rate (GFR) by comparing simultaneously measured clearances of inulin, 125I-iothalamate, endogenous creatinine, urea and 169ytterbium diethylenetriaminepentaacetic acid (169YB-DTPA) in patients receiving repetitive hemodialysis. In patients with GFR less than 5 ml/min but greater than 1 ml/min, 125I-iothalamate clearance showed the best correlation with inulin clearance. However, creatinine clearance correlated better with inulin clearance than urea clearance and as well as urea + creatinine/2. In the patients with measured GFR less than 1 ml/min, the correlation of 125I-iothalamate, creatinine, urea and urea + creatinine/two clearances with inulin clearance was satisfactory. Similarly, satisfactory correlations were obtained when the relationships were examined across the entire range of measured clearances less than 5 ml/min. A simple, practical method is descriged for the accurate serial measurement of residual GFR in patients receiving repetitive dialysis.

Orofaciodigital syndrome type I (OFD I) includes striking orodental, facial, digital, renal, and central nervous system (CNS) abnormalities. Frequently associated with mental retardation, OFD I is inherited as an X-linked dominant trait, lethal in males. Here, we report the variable expressivity of OFD I in 6 black U.S. females and review findings in 2 previously reported black patients. Only these 8 of over 160 reported cases involve blacks. Abnormalities observed in black patients are similar to those observed in whites, but with specific differences. Only 25% of the blacks had cleft palate and none was observed with midline cleft of the upper lip. Among whites, 80% have cleft palate and 45% midline cleft of the upper lip. These findings suggest that racial genetic factors may protect lip and palate development in blacks, even in the presence of the OFD I gene. CNS abnormalities, including agenesis of the corpus callosum, hydrocephaly, cystic brain lesions, seizures, and mental retardation, were present in 50% of our the cases. This figure is greater than previously reported. Polycystic kidneys were present in 3 of our patients. Including a previously reported patient, 50% of the black OFD I patients show polycystic kidneys. Hyperplastic and supernumerary frenula, with or without brachydactyly, have been shown to be strong diagnostic criteria in our patients. New findings reported here include intracranial berry aneurysm, periodontal disease, and lip pits. Clinicians treating these patients should be aware of the pleiotropic manifestations of the syndrome, which may include renal and CNS anomalies. Ultrasonic and computed tomography scan studies are indicated in patients diagnosed with OFD I.

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