Male pseudohermaphroditism as a cause of secondary hypertension: a case report

Seventeen alpha-hydroxylase deficiency (17OHD) syndrome is a rare genetic disorder of steroid biosynthesis causing decreased production of glucocorticoids and sex steroids and increased synthesis of mineralocorticoid precursors. There are only 130 cases reported worldwide with documented severe 17OHD. Here, we describe the clinical, hormonal, and molecular genetic characteristics of a Turkish patient with 17OHD, who presented to our clinic due to high blood pressure. A 29-year-old girl with 46,XY genotype was admitted to our nephrology clinic due to uncontrolled hypertension and hypokalemia. The diagnosis was suspected because of primary amenorrhea, absence of sexual maturation, hypertension, and hypokalemia. Endocrine investigation revealed low basal levels of all steroid hormones which require 17-hydroxylation for biosynthesis. Plasma concentrations of ACTH, FSH, and LH were elevated. Imaging did not reveal uterus or adnexial structures. The patient's hypertension and hypokalemia resolved after glucocorticoid replacement and treatment with potassium-sparing diuretics. 17OHD is a rare form of congenital adrenal hyperplasia in which defects in the biosynthesis of cortisol and sex steroids result in mineralocorticoid excess, hypokalemic hypertension, and sexual abnormalities such as pseudohermaphroditism in males, and sexual infantilism in females. 17OHD should be suspected in patients with hypokalemic hypertension and lack of secondary sexual development so that appropriate therapy can be implemented

Factors effective on peritoneal phosphorus transport and clearance in peritoneal dialysis patients

Aims: Transport characteristics of phosphorus are different from other small solutes that are evaluated in routine peritoneal equilibration test ( PET) in peritoneal dialysis (PD) patients. We aimed to evaluate peritoneal phosphorus clearance and permeability, and their relationship with peritoneal membrane transport type and creatinine clearance as well as factors affecting peritoneal phosphorus clearance. Methods: 70 adult patients on a PD program were included in our study. Phosphorus transport status was classified according to dialysate/plasma (D/P) phosphorus at the 4th hour of PET as slow transporter ( 0.67). We evaluated the relationship of peritoneal phosphorus clearance and transport type with PD regime, phosphorus level, and presence of residual renal function in addition to investigating factors that are effective on peritoneal phosphorus clearance. Results: D/P phosphorus and peritoneal phosphorus clearance were positively correlated with D/ P creatinine and peritoneal creatinine clearance, respectively. Automated PD and continuous ambulatory PD patients were similar regarding phosphorus and creatinine clearances and transport status based on D/ P phosphorus. The major determinant of peritoneal phosphorus clearance was anuria status. Anuric patients had higher dialysate volume (11.6 +/- 3.0 L vs. 8.4 +/- 2.1 L, p < 0.001) and therefore higher peritoneal phosphorus clearance (61.7 +/- 15.1 L/week/1.73 m(2) vs. 48.4 +/- 14.0 L/week/1.73 m(2), p = 0.001). Hyperphosphatemia was present in 40% and 11% of anuric patients and those with residual renal function, respectively (p = 0.005). Conclusions: Peritoneal phosphorus transport characteristics are similar to that of creatinine. Although increased dialysis dose may increase peritoneal phosphorus clearance, it may be insufficient to prevent hyperphosphatemia in anuric patients

Primary hyperoxaluria in an adult presenting with end-stage renal failure together with hypercalcemia and hypothyroidism

Primary hyperoxaluria (PH) is a rare genetic disorder characterized by overproduction of oxalate due to specific enzyme deficiencies in glyoxylate metabolism. The primary clinical presentation is in the form of recurrent urolithiasis, progressive nephrocalcinosis, end-stage renal disease, and systemic oxalosis. Herein, we present a case of PH who was diagnosed at 47 years of age after 6 years on hemodialysis. He presented with fatigue, anorexia, weight loss, and was found to have cachexia, diffuse edema, hepatomegaly, ascites, hypercalcemia, hyperphosphatemia, hypoalbuminemia, low parathyroid hormone levels, lytic and resorptive areas in the vertebrae, diffusely increased echogenity of the liver, multiple renal stones, and bilateral nephrocalcinosis. Bone marrow biopsy showed calcium oxalate crystals and crystal granulomas. The liver biopsy could not be performed. The absence of an identifiable reason for secondary forms, the severity of the clinical presentation, and pathological findings led to the diagnosis of PH2. He died while waiting for a potential liver and kidney donor. The presented case is consistent with the literature as he had renal stone disease in the third decade and end-stage renal disease in the fifth decade. Hypercalcemia was thought to be due to osteoclast-stimulating activity of macrophages constituting the granuloma. Erythropoietin-resistant anemia and hypothyroidism were thought to be due to accumulation of oxalate in the bone marrow and thyroid gland, respectively. It is very important to keep in mind the possibility of PH when faced with a patient with nephrocalcinosis and oxalate stone disease

Placement of Hemodialysis Catheters with a Technical, Functional, and Anatomical Viewpoint

Aims. Vascular access is of prime importance for hemodialysis patients. We aimed to study early complications of hemodialysis catheters placed in different central veins in patients with acute or chronic renal failure with or without ultrasound (US ) guidance. Material and Methods. Patients who were admitted to our unit between March 2008 and December 2010 with need for vascular access have been included. 908 patients were examined for their demographic parameters, primary renal disease, and indication for catheterization, type and location of the catheter, implantation technique, and acute complications. Results. The mean age of the patients was 60.6 ± 16.0 years. 643 (70.8 %) of the catheters were temporary while 265 (29.2%) were permanent. 684 catheters were inserted to internal jugular veins, 213 to femoral, and 11 to subclavian veins. Arterial puncture occurred in 88 (9.7%) among which 13 had resultant subcutaneous hematoma. No patient had lung trauma and there had been no need for removal of the catheter or a surgical intervention for complications. US guidance in jugular vein and experience of operator decreased arterial puncture rate. Conclusion. US-guided replacement of catheter to internal jugular vein would decrease complication rate. Referral to invasive nephrologists may decrease use of subclavian vein. Experience improves complication rates even under US guidance

Use of Catheters for Vascular Access among Hemodialysis Patients: A Single Center's Experience

AIM: Vascular access is of prime importance for patients on hemodialysis. Most of the unplanned hemodialysis sessions are performed via venous catheters in our country. In the present study, we aimed to study early complications of placement of temporary or permanent hemodialysis catheters to patients with acute and/or chronic renal failure

Short Term Effects of Diltiazem on Renal Functions: A Controlled Clinical Study

OBJECTIVE: We aimed to study acute effects of diltiazem on renal functions and its renoprotective effects in patients with chronic kidney disease (CKD)

Use of Catheters for Vascular Access among Hemodialysis Patients: A Single Center's Experience

AIM: Vascular access is of prime importance for patients on hemodialysis. Most of the unplanned hemodialysis sessions are performed via venous catheters in our country. In the present study, we aimed to study early complications of placement of temporary or permanent hemodialysis catheters to patients with acute and/or chronic renal failure

The relationship of Prohepcidin levels with anemia and inflammatory markers in non-diabetic uremic patients: a controlled study

Introduction: Hepcidin, a small peptide hormone synthesized in the liver, plays central role in regulation of iron metabolism. Hepcidin generation in chronic kidney disease (CKD) is dependent on iron status, anemia, inflammation, and hypoxia and erythropoietin levels. In our study, the relationship between Prohepcidin levels and inflammation and iron indices in non-diabetic uremic patients was investigated. Methods: This study has a cross-sectional design which includes four groups: Non-diabetic 21 patients with stage 4 CKD (predialysis), 20 hemodialysis (HD) and 21 peritoneal dialysis (PD) patients and 17 healthy volunteers as the control group. Complete blood count, iron, total iron binding capacity (TIBC), ferritin, high-sensitive C-reactive protein (hsCRP), fibrinogen, parathyroid hormone, interleukin (IL)-6 and Prohepcidin levels were recorded. Results: Serum Prohepcidin levels in the predialysis, HD, PD and the control groups were 119.6 +/- 45.1 ng/mL, 140.2 +/- 41.8 ng/mL, 148.2 +/- 35.0 ng/mL and 93.8 +/- 21.9 ng/mL, respectively (p<0.001). Prohepcidin was positively correlated with urea (r = 0.345, p = 0.002), creatinine (r = 0.465, p<0.001), phosphorus (r = 0.253, p = 0.025), hsCRP (r = 0.275, p = 0.019), duration of dialysis treatment (r = 0.443, p<0.001), fibrinogen (r = 0.467, p<0.001) and IL-6 (r = 0.615, p<0.001) levels. A negative correlation was detected between Prohepcidin levels and albumin (r = -0.286, p<0.001), TIBC (r = -0.573, p<0.001), GFR (r = -0.473, p<0.001), hemoglobin (r = -0.351, p = 0.002) and hematocrit (r = -0.342, p = 0.002) levels. Discussion: Prohepcidin levels increase with deepening anemia and show positive correlation with inflammatory markers. Therapeutic interventions regarding Prohepcidin action on inflammatory status may play a role in the treatment of anemia due to inflammation. Functional iron deficiency is frequent in uremic patients. It may be beneficial to measure Prohepcidin level together with ferritin among these patients

CITROBACTER PERITONITIS: TWO CASES AND REVIEW OF THE LITERATURE

One of the uncommon gram negative organisms causing peritonitis in peritoneal dialysis patients is Citrobacter. Because of this organism's resistant nature, treatment for Citrobacter peritonitis may be difficult, and removal of the catheter may be necessary in refractory cases. Here we present 2 cases of peritonitis caused by this organism and fully treated with antibiotics. The literature contains only a limited number of reports on Citrobacter peritonitis, mostly case reports or portions of general papers about the microbiological spectrum of peritonitis in the relevant units. Until enough data about this micro-organism have been accumulated to map out an approach, it is wise to individualize treatment by watching the response of the patient during the wait for the antibiogram result and not to hesitate to remove the catheter if the clinical situation deteriorates