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. METHODS: In this 10-year follow-up study, podocyturia and other renal clinical data were evaluated in 39 patients with FD. From 2009 to 2019, podocyturia was assessed in 566 fresh urine samples from 13 male and 26 female FD patients using immunocytochemical detection of podocalyxin. RESULTS: Podocyturia (number of podocytes per 100 mL of urine) was found in 311/566 (54.9%) of the samples, more frequently (68.9 ± 21.9% versus 50.6 ± 25.9%; P = 0.035) and with higher values (364 ± 286 versus 182 ± 180 number of podocytes per gram of creatinine (Cr) in urine; P = 0.020) in males compared with females. The mean number of assessed samples for each patient was 14.5 (range 3-40) and the frequency of samples with podocyturia ranged from 0% to 100% (median 57%). Podocyturia was already present in 42.9% of patients <20 years of age and in 89.5% of normoalbuminuric patients. Podocyturia correlated with albuminuria (urine albumin:Cr ratio) (r = 0.20, P < 0.001) and a higher incidence and values of podocyturia were observed in patients with lower estimated glomerular filtration rate. CONCLUSIONS: Our data demonstrated that podocyturia is an early clinical event in the development of nephropathy. In addition, we found podocyturia to be a discontinuous event with wide variability.

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. In fact, some studies have shown the beneficial effects of paricalcitol on proteinuria. CASE REPORT We present a case of a female patient with the classic variant of Fabry disease. She was treated with a high dose of paricalcitol as an antiproteinuric agent due to unsatisfactory double-RAAS blockage, which resulted in transient worsening of cardiac and renal function. CONCLUSIONS Despite the positive effects of paricalcitol as an antiproteinuric agent, as previously shown by some authors, our case highlights the possible serious adverse effects associated with the use of high doses of this drug.

Type 1 Kounis Syndrome in Patient with Idiopathic Anaphylaxis.

Kounis syndrome represents the concurrence of acute coronary syndromes or anginal pain with allergic, hypersensitivity, and anaphylactic reactions. It can be associated with normal coronary angiogram or preexistent coronary pathology. Idiopathic anaphylaxis is defined as anaphylaxis without any identifiable precipitating agent or event. We present a case of male who experienced attacks of dyspnoea, hypoxemia, hypotension, purple-red skin, and chest pain over several years. He was diagnosed with idiopathic anaphylaxis. Based on the pattern of chest pain of ischemic origin during the attacks he was retrospectively diagnosed with Kounis syndrome.

Glycemia management in a Slovenian general hospital.

BACKGROUND: In-hospital hyperglycemia is common and associated with an increased risk of in-hospital mortality and extensive length of stay but there are only few studies on real-life hyperglycemia and diabetes management. METHODS: In this cross-sectional, non-interventional, prospective study we analyzed medical charts on glycemia status at our internal medicine department for 5 consecutive months. Patients were grouped by departments and divided into subgroups by diabetes type, etiology and duration. Physicians answered a questionnaire regarding knowledge on national guidelines and personal opinions on the subject. RESULTS: A total of 7080 capillary blood glucose measurements from 308 patients were included in the study. Patients were of Caucasian origin with a mean age 72.7 ± 10.7 years and 50.3% were male. Of the measurements 63.3% were within glycemia goals, 2.7% in the range of hypoglycemia and 0.3% of hyperglycemic syndromes. The mean value was 8.88 ± 3.5 mmol/l (159.84 ± 63 mg/dl). There were no differences in mean glucose measurements but significant differences in reaching glycemia target goals and frequency of acute complications between intensive care, general ward and palliative care patients. Subgroup analysis confirmed the association between glycemia management and newly discovered diabetes, type 1 diabetes, steroid use and disrupted food intake (p < 0.05 for all). CONCLUSIONS: Our results on in-hospital glycemia management seem comparable to previously published data. Patients with newly discovered diabetes, type 1 diabetes, treated with steroids and those eating improperly should be closely monitored. Additional education on guidelines and steroid-induced hyperglycemia accompanied by updated medical charts represent possible improvements. Quality standards for in-hospital glycemia management should be established.