Podocyturia in Fabry disease: a 10-year follow-up.

Background: Fabry disease (FD) is a rare X-linked disorder of sphingolipid metabolism that results in chronic proteinuric nephropathy. Podocytes are one of the most affected renal cells and play an important role in the development and progression of kidney disease. Detached podocytes found in urine (podocyturia) are considered as a non-invasive early marker of kidney injury; however, the dynamics of podocyte loss remains unknown.

Paricalcitol as an Antiproteinuric Agent Can Result in the Deterioration of Renal and Heart Function in a Patient with Fabry Disease.

BACKGROUND Fabry disease is a rare and progressive X-linked inherited disorder of glycosphingolipid metabolism that is due to deficient or absent lysosomal a-galactosidase A activity. Among its other associated signs and symptoms, patients present with renal failure and proteinuria, which are markers of disease progression. Renin-angiotensin-aldosterone system (RAAS) blockers can slow the progression of chronic renal failure and proteinuria.

Exocrine pancreatic insufficiency is not a cause of abdominal complaints in patients with Fabry disease.

Background: Fabry disease (FD), also called Anderson-Fabry disease, is the second most prevalent lysosomal storage disorder after Gaucher disease. Gastrointestinal (GI) symptoms are very common among male and female individuals, although the age of onset is later among female patients. To our best knowledge, exocrine pancreatic insufficiency (EPI) has not yet been studied in patients with FD as a possible cause of abdominal complaints.

The syndrome of cardiac failure in adults with congenitally corrected transposition.

Objectives: To assess neurohormonal activation of cardiac failure in adults with congenitally corrected transposition, and to determine the most sensitive marker for recognition of the cardiac failure.

Background: The onset of morphologically right ventricular dysfunction is unpredictable in patients with congenitally corrected transposition, the combination of discordant atrioventricular and ventriculo-arterial connections, and its markers are unknown.

Methods: We measured amino terminal pro brain natriuretic peptide in 19 patients, aged 35 plus or minus 13.

Tissue Doppler velocities of mitral annulus and NT-proBNP in patients with heart failure.

Background: It has been shown that pulsed wave tissue Doppler velocities of mitral annulus correlate well with left ventricular (LV) diastolic and systolic functions. It is not yet clear whether these velocities can be used to estimate left ventricular dysfunction in an unselected population of patients with clinical signs and symptoms of heart failure (HF).

Aim: To determine whether LV mitral annulus velocities measured by tissue Doppler imaging (TDI) correlate with plasma N-terminal pro-brain natriuretic peptide (NT-proBNP) levels in patients with HF.

Cerebral and coronary gas embolism from the inhalation of pressurized helium.

Objective: Inhalation of helium, which produces a change in the voice, is frequently used among young rock singers to improve their performance.

Design: A case report.

Settings: Adult medical intensive care unit in a university hospital.