Children with IPD should undergo immunological investigations, particularly those aged >2 years, as PIDs may be discovered in up to 26% of cases.

Raine syndrome is an autosomal recessive disorder caused by mutations in the FAM20C gene. FAM20C codes for the human homolog of DMP4, a dentin matrix protein highly expressed in odontoblasts and moderately in bone. DMP4 is probably playing a role in the mineralization process. Since the first case reported in 1989 by Raine et al. 21 cases have been published delineating a phenotype which associates dysmorphic features, cerebral calcifications, choanal atresia or stenosis and thoracic/pulmonary hypoplasia. Kan and Kozlowski suggested the name of Raine syndrome to describe this new lethal osteosclerotic bone dysplasia. All the cases described were lethal during the neonatal period except for the last two reported patients aged 8 and 11 years who presented severe mental retardation. Here we describe two sisters, with an attenuated phenotype of Raine syndrome, who present an unexpectedly normal psychomotor development at ages 4 and 1, respectively. Identification of a homozygous mutation in the FAM20C gene confirmed the Raine syndrome diagnosis, thus contributing to the expansion of the Raine syndrome phenotype. This case report also prompted us to revisit the FAM20 gene classification and allowed us to highlight the ancestral status of Fam20C.

Efficiency of peritoneal dialysis (PD) is dependent on adequate ultrafiltration (UF) and purification (solute clearance). These two goals apparently seem to conflict in terms of duration of dwells: short dwell time enhances UF capacity and, conversely, long dwell time enhances solute clearance. Peritoneal equilibration test (PET) allows an approach to the ultrafiltration time: the point at which the over time dialysate urea saturation and glucose desaturation curves cross, called APEX time. PET also allows an approach to the purification time: the point at which dialysate-to-plasma (DIP) concentration ratios over time are high. Because of the value of phosphate as a uremic factor of morbidity, we have chosen the time at which DIP phosphate is equal to 0.6 as a purification phosphate dwell time (PPT). A total of 17 patients were studied, over a five-year period, allowing 142 determinations. APEX times (range 18 71 min) and PPT (range 105 -238 min) were spread over a wide distribution. PPT and APEX times were significantly shorter in children younger than three years of age than in children older than ten years of age. PPT were nearly four times longer than APEX times. Knowledge of these conflicting ultrafiltration and purification times should help, in our view, in the individual choice of the PD modality: if UF is the major goal, short dwell times should be used (automated PD); if purification is the major goal, long dwell times should be used, as in continuous ambulatory peritoneal dialysis; if both are the target goal, tidal PD should be discussed.

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