An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).

Pathogenic variants in solute carrier family 34, member 3 (SLC34A3), the gene encoding the sodium-dependent phosphate cotransporter 2c (NPT2c), cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH). Here, we report a pooled analysis of clinical and laboratory records of 304 individuals from 145 kindreds, including 20 previously unreported HHRH kindreds, in which two novel SLC34A3 pathogenic variants were identified. Compound heterozygous/homozygous carriers show above 90% penetrance for kidney and bone phenotypes.

[Pulmonary air-leakage in newborn infants].

Background: Pulmonary air-leakage (PAL), especially pneumothorax, is a potentially severe complication of pulmonary disease in newborn infants. It is often related to therapeutic procedures such as resuscitation and mechanical ventilation.

Material And Methods: This is a prospective study of infants with PAL who were born in the period 1989-2006 and were hospitalised in an intensive care unit.