Pulmonary manifestations of prolidase deficiency.

Background: Prolidase deficiency is a rare autosomal recessive disease, in which pulmonary manifestations have been sporadically reported.

Aims: We have encountered two patients who presented with severe pulmonary cystic lesions leading to respiratory failure. This led us to retrospectively evaluate pulmonary involvement in patients with prolidase deficiency treated in our hospital.

Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review.

Introduction: Prolidase deficiency (PD) is a rare autosomal recessive disorder which may have a wide spectrum of clinical features. These features include a characteristic facies, cognitive impairment, rashes or skin ulceration, splenomegaly, recurrent infections involving mainly the respiratory system, and iminodipeptiduria. The disorder is caused by a mutation in the PEPD gene.

Autosomal recessive renal proximal tubulopathy and hypercalciuria: a new syndrome.

Background: The best described primary inherited proximal tubulopathies include X-linked hypercalciuric nephrolithiasis (XLHN), caused by a mutation in the chloride channel gene CLCN5, and classic Fanconi's syndrome, the genetic basis of which is unknown. The aim of this study is to examine the clinical, biochemical, and genetic characteristics of a highly consanguineous Druze family with autosomal recessive proximal tubulopathy and hypercalciuria (ARPTH), a syndrome not reported previously.

Methods: Three children (2 girls, 1 boy) of the family referred for evaluation of renal glycosuria and hypercalciuria and 10 of their close relatives were evaluated clinically and biochemically.

MPGN type I induced by granulocyte colony stimulating factor.

We report a girl with severe congenital neutropenia who has received long-term granulocyte-colony stimulating factor (G-CSF) therapy and has developed macroscopic hematuria, proteinuria, and decreased renal function associated with biopsy-proven membranoproliferative glomerulonephritis (MPGN) type I. Temporary discontinuation of G-CSF therapy as well as the use of glycosylated G-CSF has resulted in improvement in renal manifestations. We postulate that the MPGN was G-CSF-induced.