Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis

Nephrocalcinosis describes the ectopic deposition of calcium salts in the kidney parenchyma. Nephrocalcinosis can result from a number of acquired causes, but also an even greater number of genetic diseases, predominantly renal, but also extra-renal. Here we provide a review of the genetic causes of nephrocalcinosis, along with putative mechanisms, illustrated by human and animal data

Incidence and Outcome of Acute Phosphate Nephropathy in Iceland

To access publisher full text version of this article. Please click on the hyperlink in Additional Links fieldBACKGROUND: Oral sodium phosphate solutions (OSPS) are widely used for bowel cleansing prior to colonoscopy and other procedures. Cases of renal failure due to acute phosphate nephropathy following OSPS ingestion have been documented in recent years, questioning the safety of OSPS. However, the magnitude of the problem remains unknown. METHODOLOGY/PRINCIPAL FINDINGS: We conducted a population based, retrospective analysis of medical records and biopsies of all cases of acute phosphate nephropathy that were diagnosed in our country in the period from January 2005 to October 2008. Utilizing the complete official sales figures of OSPS, we calculated the incidence of acute phosphate nephropathy in our country. Fifteen cases of acute phosphate nephropathy were diagnosed per 17,651 sold doses of OSPS (0.085%). Nine (60%) were women and mean age 69 years (range 56-75 years). Thirteen patients had a history of hypertension (87%) all of whom were treated with either ACE-I or ARB and/or diuretics. One patient had underlying DM type I and an active colitis and one patient had no risk factor for the development of acute phosphate nephropathy. Average baseline creatinine was 81.7 µmol/L and 180.1 at the discovery of acute renal failure, mean 4.2 months after OSPS ingestion. No patient had a full recovery of renal function, and at the end of follow-up, 26.6 months after the OSPS ingestion, the average creatinine was 184.2 µmol/L. The average eGFR declined from 73.5 ml/min/1.73 m(2) at baseline to 37.3 ml/min/1.73 m(2) at the end of follow-up. One patient reached end-stage renal disease and one patient died with progressive renal failure. CONCLUSION/SIGNIFICANCE: Acute phosphate nephropathy developed in almost one out of thousand sold doses of OSPS. The consequences for kidney function were detrimental. This information can be used in other populations to estimate the impact of OSPS. Our data suggest that acute phosphate nephropathy may be greatly underreported worldwide

Regression of nephrotic syndrome with colchicine therapy secondary to amyloidosis with associated Castleman's disease [2]

PubMedID: 8587630[No abstract available

LIPOID PROTEINOSIS - URBACH-WIETHE DISEASE

WOS: A1993MA60200024PubMed ID: 8241657Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal recessive disorder in which hyalinized material is deposited in the skin, mucous membranes and brain. Laryngeal changes resulting in hoarseness may be present at birth or in early infancy, often being the first sign of the disease. A typical case is presented

Stewart-treves syndrome: Questionable response to weekly paclitaxel

PubMedID: 20145393[No abstract available

Soft tissue aneurysmal bone cyst: A case report and a review of the literature

Aneurysmal bone cyst (ABC) is a benign, locally aggressive tumor of long bone and vertebral bodies. Soft tissue aneurysmal bone cyst (STABC) is an extremely rare entity that has same morphology as their osseous counterparts. The aim of this study is to keep in mind STABC in differential diagnosis of some benign and malignant tumors. A 68-year-old male presented with a swelling on his right shoulder. Radiographic imaging revealed a 9 cm calcified mass in latissimus dorsi. Excision material was interpreted as STABC. STABC is a tumor which is composed of cystic areas intermingled with reactive bone formation, hemorrhage, mononuclear cells, spindle cells and osteoclastic giant cells. This tumor has morphological features in common with variable benign and malignant entities so that it must be kept in mind for differential diagnosis

REGRESSION OF NEPHROTIC SYNDROME WITH COLCHICINE THERAPY SECONDARY TO AMYLOIDOSIS WITH ASSOCIATED CASTLEMANS DISEASE

WOS: A1995TG89300015PubMed ID: 8587630

Morphologic evaluation of the effect of denosumab on giant cell tumors of bone and a new grading scheme

PubMedID: 28547968Giant cell tumor (GCT) is a rare, usually benign but locally aggressive neoplasm. Recent studies suggest new approaches in light of the elucidation of molecular pathways in bone. The osteolytic nature of GCT is caused by the receptor for activating nuclear factor-kB ligand (RANKL) associated osteoclasts. Denosumab is a monoclonal antibody that affects GCT through RANKL and it prevents normal and neoplastic osteolysis. The aim of this study is to evaluate the histopathologic alterations due to denosumab treatment and the efficiency of this drug in GCT therapy. Ten patients had been treated with denosumab and were included in the study. Pretreatment biopsies were interpreted as conventional GCTs and posttreatment biopsies of the ten patients’ GCTs were classified in accordance with the grading system. Only one patient had tumor remaining after treatment. There is limited data on histopathologic alterations that follow denosumab treatment. The bone pathologist should keep these changes in mind because they mimic different types of bone tumors. Furthermore, there is no widely accepted grading system to evaluate the effect of denosumab in GCT. Our study suggested a scheme that would be helpful to evaluate the efficiency of denosumab treatment in GCT. © 2016, Versalius University Medical Publisher. All rights reserved