Abstract
BackgroundPseudoxanthoma elasticum (PXE) is an autosomal-recessive mineralisation disorder caused by loss of function mutations in the ABCC6 Gen. Histological findings and data of an autopsy of a PXE-patient suggest a possible pulmonal calcification. So far, there exists no clinical data whether PXE patients actually are at high risk of developing pulmonary disorder.MethodsIn a cross-sectional study, 35 PXE patients and 15 healthy controls underwent a pulmonary function testing, including spirometry, body plethysmography and carbon monoxide diffusing test. Additionally, PXE patients completed a COPD–Assessment-Test (CAT).ResultsWe observed in PXE patients normal values for predicted vital capacity (VC%; 96.0±13.0%), predicted total lung capacity (TLC%; 98.2±12.0%) and predicted forced expiration volume (FEV1%; 102.5±15.6%), whereas compared to healthy controls the PXE group showed significant diminished values for carbon monoxide diffusing capacity (DLCO, 7.2 ±1.4mmol/min/kPa vs. 8.6 ±1.5 mmol/min/kPa; p = 0.008) and predicted carbon monoxide diffusing capacity (DLCO%; 79.7±11.5% vs. 87.2±6.6%; p = 0.008). 11/35 (31.4%) PXE patients showed pathological DLCO% values under 75% (68.5%±5.4%).ConclusionPXE patients demonstrated a regular lung function testing, but nevertheless they had impaired CO diffusing parameters, which might be associated with a preclinical state of an interstitial lung disease and a risk for restrictive ventilation disorders.
Highlights
Pseudoxanthoma elasticum (PXE), known as Grönblad Strandberg syndrome, is a rare disease with an estimated prevalence of prevalence of 1:25 000 to 1:100 000 [1]
Pseudoxanthoma elasticum (PXE) is an autosomal-recessive mineralisation disorder caused by loss of function mutations in the ABCC6 Gen
We observed in PXE patients normal values for predicted vital capacity (VC%; 96.0 ±13.0%), predicted total lung capacity (TLC%; 98.2±12.0%) and predicted forced expiration volume (FEV1%; 102.5±15.6%), whereas compared to healthy controls the PXE group showed significant diminished values for carbon monoxide diffusing capacity (DLCO, 7.2 ±1.4mmol/min/kPa vs. 8.6 ±1.5 mmol/min/kPa; p = 0.008) and predicted carbon monoxide diffusing capacity (DLCO%; 79.7±11.5% vs. 87.2±6.6%; p = 0.008). 11/35 (31.4%) PXE patients showed pathological DLCO% values under 75% (68.5%±5.4%)
Summary
Pseudoxanthoma elasticum (PXE), known as Grönblad Strandberg syndrome, is a rare disease with an estimated prevalence of prevalence of 1:25 000 to 1:100 000 [1]. PXE is an autosomal recessive mineralization disorder [2] caused by several loss of function mutations [3] in the ABCC6 gene. It encodes a transmembrane ATP-binding cassette transporter[2] on the basolateral surface [4], mainly expressed in the liver [5], which mediates the cellular release of ATP [2] in healthy people. Pseudoxanthoma elasticum (PXE) is an autosomal-recessive mineralisation disorder caused by loss of function mutations in the ABCC6 Gen. Histological findings and data of an autopsy of a PXE-patient suggest a possible pulmonal calcification. There exists no clinical data whether PXE patients are at high risk of developing pulmonary disorder
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