Could immune cells be associated with nephropathy in Fabry disease patients?

BACKGROUND: In Fabry Disease (FD), although the primary factor initiating kidney damage is glycosphingolipid accumulation, secondary conditions such as increased inflammation and fibrosis may cause this damage to progress. These processes may be induced by immune cells. Therefore, we aimed to investigate the peripheral lymphocyte subgroup analysis of the patients with FD and compare these results with healthy individuals. In addition, we performed T, B, NK, and plasma cell analyses in kidney biopsy materials and compared these kidney biopsy results with the biopsy results of patients whose kidney functions were impaired after 4 years of regular ERT. MATERIALS AND METHODS: 18 FD and 16 healthy individuals were included in the study. T-B lymphocyte and NK-cell populations were determined. We performed kidney biopsies (KBx) on 13 patients with FD prior to ERT. Of these, 4 patients had rebiopsy after 4 years of regular ERT. Immunohistochemical staining was performed to define immune cell infiltration. RESULTS: There was no statistically significant difference in terms of total, helper and cytotoxic T-lymphocyte and CD3-CD16+CD56+ natural killer (NK)-cell count (p = 0.20; p = 0.12; p = 0.76; p = 0.75, respectively).According to KBx findings prior to ERT, all patients had interstitial fibrosis (IF), podocyte vacuoles (PV), and podocyte inclusion (PI), CD3, CD4, CD8, CD16, and CD56 positivity at different levels. None of the patients had CD19, CD20, and CD138 positivity at the first biopsies. When we compared the first and the second KBx results of the two progressors, we also demonstrated that CD3+4+T-cells infiltration remained the same, whereas CD8+T cells, CD16+ and 56+NK-cells infiltration were significantly decreased. In contrast, CD20+B cells and CD138+plasma cell infiltration were significantly increased despite 4 years of ERT (15 fold and sixfold, respectively). The CD20+B and CD138+ plasma cells and IF were positively correlated with proteinuria. CONCLUSIONS: The progression of FD nephropathy and proteinuria is increased despite a long-term ERT. Immune cells, primarily B and plasma cells, might cause these unwanted consequences.

Severe hypercalcaemia of primary hyperparathyroidism: Could giant adenoma be the real culprit rather than carcinoma?

INTRODUCTION: Hypercalcaemic crisis is a rare manifestation of hyperparathyroidism and occurs in 1.6-6% of patients with primary hyperparathyroidism (pHPT). Although such high serum calcium levels (>14mg/dl) are attributed to malignancy, it is also associated with benign disease of the parathyroid glands. The aim of this study was to evaluate the clinical features and treatment modalities of patients with severe hypercalcaemia who underwent surgery for pHPT. METHODS: The medical records of 537 patients who underwent parathyroidectomy in our department for pHPT between 2005 and 2019 were reviewed retrospectively. Twenty-four (4.4%) of the patients were described as having severe hypercalcaemia. RESULTS: Among 24 patients, 71% were female and the mean age was 55.7 years (range: 40-71 years). The mean serum calcium level at time of diagnosis was 15.9mg/dl (range: 14-22.7mg/dl). According to postoperative pathology reports, solitary adenoma, parathyroid cancer and parathyromatosis were diagnosed with the rates of 87.5%, 8.3% and 4.1% respectively. The mean weight of the solitary parathyroid lesions was 14.9g (standard deviation: 8.9g, range: 4-38g). The mean longest diameter was 2.87cm (standard deviation: 1.4cm, range: 1-5.5cm). Serum calcium levels were within the normal range on the first postoperative day in 75% of the cases. CONCLUSIONS: Severe hypercalcaemia is a rare but urgent condition of pHPT and requires prompt management. Accelerated surgery after adequate medical treatment should be performed. It is important to emphasise that giant adenoma, which is a benign disease, may be a more common cause of severe hypercalcaemia than carcinoma, unlike previously thought.

Diagnostic value of four-dimensional computed tomography and four-dimensional magnetic resonance imaging in primary hyperparathyroidism when first-line imaging was inadequate.

INTRODUCTION: Accurate localisation of the abnormal hyperfunctioning gland with preoperative imaging has a critical role in parathyroid surgery to obtain a successful outcome. This study aimed to evaluate the diagnostic performance of second-line imaging and their contribution to the treatment success in primary hyperparathyroidism when the first-line methods were negative or discordant. METHODS: Among the patients who underwent parathyroidectomy due to primary hyperparathyroidism, 33 who underwent four-dimensional computed tomography and/or four-dimensional magnetic resonance imaging because of negative or discordant first-line imaging results were included. Persistent and recurrent cases were excluded. RESULTS: The majority of the patients were female (84.8%) and the mean age was 59.2 years. Seventeen patients had four-dimensional computed tomography and 25 had four-dimensional magnetic resonance imaging, respectively. Four-dimensional computed tomography and four-dimensional magnetic resonance imaging localised the culprit gland successfully in 52.9% and 84%, respectively. Twenty-five patients in whom single adenoma was detected underwent focused parathyroidectomy. The culprit gland was solitary in 32 cases and one patient had double adenoma. Normocalcaemia was achieved in all cases. Among the 29 patients who completed their postoperative sixth month success rate was 100%. CONCLUSION: Four-dimensional magnetic resonance imaging had high accuracy with fast dynamic imaging in detecting parathyroid adenomas. When the first-line imaging methods were negative or inconclusive, four-dimensional magnetic resonance imaging should be considered primarily since it is cost effective in Turkey and emits no radiation.

The epidemiology of elevated blood pressure as an estimate for hypertension in Aydin, Turkey.

BACKGROUND: Hypertension is an important public health problem, with some variability of its epidemiological properties in different populations. OBJECTIVES: The purpose of this study was to estimate the prevalence of hypertension and to determine the hypertension awareness, treatment and control rates in Aydin, a Turkish province. METHODS: Of 1600 coincidentally selected people aged over 18 years in Aydin, 1480 (92.5%) had their blood pressure (BP) measured and answered a standard questionnaire in 1995. RESULTS: Estimates of the prevalence of hypertension and its control were computed using two different criteria to define hypertension: BP > or =140/90 mm Hg or on treatment and BP > or =160/95 mm Hg or on treatment. Overall, the estimated prevalence of hypertension was 29.6% (for BP > or =140/90 mm Hg or on treatment). Hypertension prevalence increased progressively with age, from 9% in 18- to 29-year-olds to 70.6% in those 70-79 years of age. Women had a significantly higher prevalence than men (34.1% vs 26.0% respectively). Overall, 57.9% of hypertensive individuals were aware that they had high BP, and 82.1% of aware hypertensives were being treated with antihypertensive medications, but only 19.8% of treated hypertensives were under control (systolic pressure <140 mm Hg and diastolic pressure <90 mm Hg). In addition, housewives, unemployed, and the less educated individuals had greater mean systolic and diastolic BP. CONCLUSIONS: Our results indicate that hypertension is highly prevalent in Aydin, Turkey, and the detection and control of hypertension is unsatisfactory.