Acute myeloid leukemia in a 38-year-old hemodialyzed patient with von Hippel-Lindau disease.

Von Hippel-Lindau disease (VHL disease) is a hereditary cancer predisposition syndrome caused by mutations of the von Hippel-Lindau tumor suppressor gene. The gene product, pVHL, regulates the level of proteins that play a central role in protecting cells against hypoxia. Clinical hallmarks of von Hippel-Lindau disease are the development of central nervous system hemangioblastomas, renal cell carcinoma, pheochromocytoma, neuroendocrine tumors and endolymphatic sac tumors.In this article the case of a 38-year old hemodialyzed patient who became ill with acute myeloid leukemia (AML) three years after being diagnosed with von Hippel-Lindau disease is presented.After cytostatic treatment the patient went into complete hematologic remission but there was still residual disease at the genetic level. After consolidation therapy patient developed bone marrow aplasia and severe pneumonia. Despite intensive treatment the patient died from acute respiratory failure.In this paper we present for the first time a case of von Hippel-Lindau disease associated with acute myeloid leukemia. No evidence of relationship between VHL disease and blood cancers has been demonstrated so far. Despite the fact that there is an increased risk of cancer development in hemodialyzed patients, cancer is a relatively rare cause of death in the dialysed population, and the most common malignancies are genitourinary cancers. It seems likely that development of acute myeloid leukemia in patient with VHL disease can be related to epigenetic alterations of the VHL gene, but further studies are needed.

Transplanted kidney loss during colorectal cancer chemotherapy: A case report.

BACKGROUND: The overall risk of de novo malignancies in kidney transplant recipients (KTRs) is higher than that in the general population. It is associated with long-lasting exposure to immunosuppressive agents and impaired oncological vigilance due to chronic kidney disease. Colorectal cancer (CRC), frequently diagnosed in an advanced stage, is one of the most common malignancies in this cohort and is associated with poor prognosis. Still, because of the scarcity of data concerning adjuvant chemotherapy in this group, there are no clear guidelines for the specific management of the CRCs in KTRs. We present a patient who lost her transplanted kidney shortly after initiation of adjuvant chemotherapy for colon cancer. CASE SUMMARY: A 36-year-old woman with a medical history of kidney transplantation (2005) because of end-stage kidney disease, secondary to chronic glomerular nephritis, and long-term immunosuppression was diagnosed with locally advanced pT4AN1BM0 (clinical stage III) colon adenocarcinoma G2. After right hemicolectomy, the patient was qualified to receive adjuvant chemotherapy that consisted of oxaliplatin, leucovorin and 5-fluorouracil (FOLFOX-4). The deterioration of kidney graft function after two cycles caused chemotherapy cessation and initiation of hemodialysis therapy after a few months. Shortly after that, the patient started palliative chemotherapy because of cancer recurrence with intraperitoneal spread. CONCLUSION: Initiation of adjuvant chemotherapy for colon cancer increases the risk of rapid kidney graft loss driven also by under-immunosuppression.

[Obesity and bone metabolism]. / Otylosc a metabolizm kosci.

Both bone and adipose tissue change their size, shape and distribution during the whole human being's life. Many factors, including genetic factors, hormones and activity of nervous system are responsible for these changes. It is generally accepted that obesity has a protective effect on bone tissue. On the other hand some authors present an opposite results--the lack of beneficial effect of obesity on development of osteoporosis fractures. The aim of this article was to present and discuss the relations between adipose tissue and bone metabolism.

Osteoprotegerin--does it play a protective role in the pathogenesis of bone loss in obese perimenopausal women?

INTRODUCTION: Assessment of serum osteoprotegerin (OPG) concentrations in obese patients in comparison to healthy controls and evaluation of a possible correlation between OPG and other markers of bone turnover or calcitropic hormones. MATERIAL AND METHODS: 50 obese perimenopausal women without concomitant diseases (BMI 36.7 +/- 4.1 kg/m(2), mean age 50.4 +/- 4.9 yrs). The control group consisted of 19 healthy women (BMI 24.2 +/- 2.1 kg/m(2); mean age 53.8 +/- 5.1 yrs). In all patients serum concentration of OPG, C telopeptide of type I collagen containing the crosslinking site (CTX), osteocalcin, parathormone (PTH) and vitamin D (25-OH-D(3)) was assessed. Dual energy x-ray absorptiometry (the DXA method) of the lumbar spine and femoral neck was performed using a Lunar DPXL to measure bone marrow density (BMD). RESULTS: In obese perimenopausal women serum OPG, osteocalcin and 25-OH-D(3) levels were significantly lower, and the serum PTH level was significantly higher in comparison to healthy controls. A significantly positive correlation was found between serum OPG level and age in both obese and control subjects. CONCLUSION: The serum OPG level in obese perimenopausal women is significantly lower in comparison to healthy controls and does not correlate significantly with biochemical markers of bone turnover, calcitropic hormones and BMD. It probably cannot play a protective role in the pathogenesis of bone loss in obese perimenopausal women.

Novel 1113delC menin gene mutation in a Polish family with multiple endocrine neoplasia type 1 syndrome.

We report the case of a 32-year-old male with hypercalcemia and recurrent nephrolithiasis as a symptom of primary hyperparathyroidism, hypoglycemia due to insulinoma, microprolactinoma, and a large, partially calcified tumor of the upper right leg. The patient underwent several surgical interventions including subtotal parathyreoidectomy, partial pancreatectomy, and percutaneous nephrolithotrypsy. Regular treatment with bromocriptine was required for normalization of serum prolactin concentration. His only sibling, a 26-year-old sister, suffered from microprolactinoma and had been treated with bromocriptine for 6 years. Their father had suffered from recurrent kidney stones and peptic ulcer and died at the age of 34. A novel 1113delC mutation within exon 7 of the menin gene was found in both siblings. This mutation results in a frame-shift with missense translation of the subsequent residual acids and preterm termination of the peptide at codon 357.

[Impact of the mass-reductive therapy with orlistat on 25-(OH)-D3 and PTH concentration in sera of obese, menopausal women]. / Wplyw terapii odchudzajacej z zastosowaniem Orliastu na stezenie 25-(OH)-D3 i PTH w surowicy u otylych kobiet w wieku okolomenopauzalnym.

UNLABELLED: Epidemiological studies suggest a protective influence of obesity against postmenopausal bone loss. Lower risk of osteoporotic fractures was described in obese patients. However there were only a few studies which examined the effect of weight reduction on bone metabolism and results of these studies are controversial. The aim of the study was to evaluate the influence of weight reduction program using Orlistat on bone metabolism in perimenopausal women. Twenty obese women with simple obesity and without concomitant diseases (BMI 37.1 +/- 3.0 kg/m2, mean age 49.8 +/- 4.6 yrs) were enrolled into this study. The control group consisted of 20 healthy women (mean age 53.5 +/- 5.4 yrs, BMI 24.1 +/- 2.2 kg/m2). All patients have participated in a 3-month weight reduction therapy that consisted of: a 1000-1200 kcal/ day balanced diet (daily calcium consumption about 500mg), Orlistat 3 x 120mg a day and regular physical exercises. Before the weight reduction therapy and after 10% reduction of body weight, serum concentrations of PTH, 25-(OH)-D3, total calcium and phosphorus, total cholesterol were assessed. Dual energy x-ray absorptiometry (DEXA method) of lumbar spine and femoral neck, measuring BMD was performed once, after a 3-month weight reduction therapy using Lunar DPXL. All these measurements were performed only once in control subjects. After a 3-month weight reduction program in patients treated with Orlistat the mean weight loss was 11.6 +/- 5.1 kg which is 12.1 +/- 4.78 %. BMI decreased from 37.1 +/- 3.0 kg/m2 at baseline to 32.6 +/- 2.7 kg/m2 post-treatment. The body weight reduction resulted in significant decrease of body fat and total cholesterol concentration. In obese subjects serum concentration of 25-(OH)-D3 was significantly lower and serum concentration of PTH was significantly higher in comparison to healthy controls, both before and after weight reduction therapy. Serum concentration of PTH, 25-(OH)-D3, total calcium and phosphorus did not change significantly after therapy with Orlistat. CONCLUSION: 3-month weight reduction program using Orlistat did not influence significantly bone metabolism.

[Acute renal failure in a patient with disseminated intravascular coagulation accompanied by acute promyelocytic leukemia: a case report, diagnostic difficulties]. / Ostra niewydolnosc nerek w przebiegu zespolu wykrzepiania wewnatrznaczyniowego towarzyszacego ostrej bialaczce promielocytowej--opis przypadku, trudnosci diagnostyczne.

A 24-years old female patient with acute renal failure and disseminated intravascular coagulation (DIC) accompanied by acute promielocytic leukemia (APL) is described. The typical for APL features of DIC was dominated by signs of shock, acute renal failure and acute respiratory failure. The absence of blasts in peripheral blood was the reason of diagnostic difficulties and delayed treatment of leukaemia.

[Liddle's syndrome--a case report and genetic diagnostics]. / Zespól Liddle'a--opis przypadkui badan genetycznych.

We present a case of a 52-year-old male with Liddle syndrome. The results of genetic studies and treatment in this condition is described.

Influence of calcium and vitamin D supplementation on weight and fat loss in obese women.

BACKGROUND: Dairy products not only reduce the risk of hypertension and cardiovascular diseases but may play a role in the treatment of obesity. As there is some evidence that calcium (Ca) and vitamin D may play a role in effective weight management, we decided to evaluate the influence of Ca and vitamin D supplementation on weight and fat loss in obese women. MATERIAL AND METHODS: Forty obese women were enrolled in this study. Subjects were divided into 2 groups comparable with body mass index (BMI) and age. Group 1 was provided with calcium carbonate and 1-(OH)-vitamin D supplementation. Group 2 was provided with only a diet. Subjects participated in a 3-month weight reduction therapy (balanced diet, modification of life style, and regular physical exercise). Blood samples (serum concentration of Ca, phosphorus (P), parathormone (PTH), 25-(OH)-D3) and clinical characteristics (weight, height, BMI, body composition) were taken at baseline and after the 3-month program. RESULTS: No significant differences of body weight, body fat content, serum parathormone, 25-(OH)-D3 concentration, and plasma total Ca and P concentration were observed between analyzed groups both before and after the treatment. Additionally, we did not observe any significant influence of Ca and vitamin D supplementation on weight and fat loss. CONCLUSION: Ca plus vitamin D supplementation during a 3-month low caloric diet has no additional effect on weight and fat loss in obese women.

The influence of weight loss on serum osteoprotegerin concentration in obese perimenopausal women.

OBJECTIVE: To assess the influence of weight reduction therapy on serum osteoprotegerin (OPG) concentration in obese patients and compare these results with normal-weight controls. RESEARCH METHODS AND PROCEDURES: Forty-three obese women (BMI, 36.7 +/- 4.1 kg/m2; mean age, 50.1 +/- 4.5 years) were studied. The control group consisted of 19 normal-weight women (BMI, 24.2 +/- 2.1 kg/m2; mean age, 53.8 +/- 5.2 years). In all patients, serum concentrations of OPG, C telopeptide of type I collagen containing the cross-linking site (CTX), osteocalcin, parathormone, 25-(OH)-D3 (vitamin D), and total calcium and phosphorus were assessed before and after a 3-month weight reduction therapy. RESULTS: In obese subjects, serum concentrations of OPG, 25-(OH)-D3, osteocalcin, total calcium, and phosphorus were significantly lower, and serum concentration of parathormone was significantly higher, before weight reduction therapy in comparison with normal-weight controls. After weight reduction, a significantly higher serum concentration of 25-(OH)-D3 and CTX and significantly lower concentration of OPG were found. DISCUSSION: Serum concentration of OPG was significantly lower in obese patients in comparison with normal-weight controls. Weight reduction therapy resulted in further decrease in OPG serum concentrations. Therefore, OPG cannot be treated as a protective factor from bone loss in obese patients.

The adipose tissue as an endocrine organ--a nephrologists' perspective.

During the last decade white adipose tissue was recognized as an active endocrine organ and a source of many proinflammatory cytokines, chemokines, growth factors and complement proteins called 'adipokines' or 'adipocytokines'. The contribution of different cell types which compose the adipose tissue: adipocytes, preadipocytes, stromal/vascular cells and macrophages in secretion of above-mentioned adipokines varies remarkably. These adipokines seem to play an important role in the pathogenesis of obesity-related comorbidities. In this review, we have summarized the present knowledge on the most important adipokines in patients with obesity, arterial hypertension and chronic kidney diseases.

[The nail-patella syndrome: rare genetically determined cause of proteinuria]. / Zespól paznokciowo-rzepkowy--rzadko wystepujaca przyczyna bialkomoczu uwarunkowanego genetycznie.

Nail-patella syndrome (NPS) is rare genetic disorder with autosomal mode of inheritance resulting from mutations in the LMX1B gene mapped on the long arm of chromosome 9 (9q34), encoding transcription factor, also named LMX1B. This syndrome is characterized by a skeletal malformations, such as dysplasia of the knees (with typical patellar hypoplasia or aplasia), elbows and nails as well as characteristic protuberaces of ilium named ,,iliac homes". Chronic nephropathy and nails dysplasia are most common extraosseal signs of NPS. Familial, genetic proved (missense mutation -G599A (R200Q) case of NPS in the mother and her son was presented. Clinical features characteristic for this syndrome and observed in both our patients were compared to the data published previously.

[Clinical, biochemical and hormonal characteristics of 84 patients with incidentally found adrenal tumor (incidentaloma)]. / Charakterystyka kliniczna, biochemiczna i hormonalna 84 chorych z przypadkowo wykrytym guzem nadnerczy (incydentaloma).

In this study we have analyzed 84 patients (58 women, 26 men, mean age 57 +/- 1.1 year) hospitalized in the Department of Nephrology, Endocrinology and Metabolic Diseases of the Medical University of Silesia in Katowice from 01.01.1999 to 30.04.2003 because of incidentally discovered adrenal tumors (incidentaloma). The diameter of the tumors ranged from 8 to 86 mm (mean size 35.4 +/- 1.8 mm). Unilateral tumors were found in 74 patients and bilateral ones in 10 patients. In all patients circadian rhythm of plasma cortisol concentration and urinary cortisol excretion were measured. In 73 patients with a history of hypertension plasma renin activity was estimated in basal conditions and after stimulation by sodium restriction and upright position. Aldosteronemia and urinary metoxycatecholamines excretion were also determined. 45 patients with tumors >4 cm and/or with suspicion of malignancy or hormonal hypersecretion were qualified for surgical treatment. Thirty two patients out of the selected 45 have been operated so far. In two patients histopathological examination confirmed malignancy (adrenocortical carcinoma in one patient and metastatic cancer in the other one). The remaining 30 patients were operated because of size of the adrenal mass (16 patients) or biochemical suspicion of pheochromocytoma (12 patients, 5 of them with the mass size >4 cm) or primary aldosteronism (2 patients). The histological examination confirmed Conn syndrome in two patients and pheochromocytoma in one patient.