Renal tubular dysfunction with nephrocalcinosis in a patient with beta thalassemia minor.
(58/173)
Thalassemia is a hereditary anemia resulting from defect in hemoglobin production. Beta thalassemia is due to impaired production of beta globin chains, leading to a relative excess of alpha globin chains. The term beta thalassemia minor is used to describe heterozygotes, who carry one normal beta globin allele and one beta thalassemic allele. The vast majority of these patients are asymptomatic. However, a variety of renal tubular abnormalities including hypercalciuria, hypo-magnesemia with renal magnesium wasting, decreased tubular absorption of phosphorus, hypo-uricemia with renal uric acid wasting, renal glycosuria and tubular proteinuria have been described even in patients with beta thalassemia minor. We here in report a 24-year old female patient who was found to have thalassemia minor and nephrocalcinosis with evidence of renal tubular dysfunction. Investigations revealed normal renal function, hypercalciuria, reduced tubular reabsorption of phosphorus, hypomagnesemia and renal magnesium wasting. Screening for aminoaciduria was found to be negative. An acid loading test revealed normal urinary acidification. Ultrasonogram of the abdomen revealed nephrocalcinosis and splenomegaly. Detailed work up for anemia showed normal white cell and platelet count while peripheral smear showed microcytic hypochromic anemia with few target cells. Hemoglobin electrophoresis revealed hemoglobin A of 92%, hemoglobin A2 of 6.2% and hemo-globin F of 1.8% consistent with beta thalassemia minor. Her parental screening was normal. A diagnosis of beta thalassemia minor with renal tubular dysfunction was made and the patient was started on thiazide diuretics to reduce hypercalciuria and advised regular follow-up. (+info)
A syndrome resembling Bartter's syndrome in sarcoidosis.
(59/173)
Renal failure due to acute phosphate nephropathy.
(60/173)
Case report of a 62-year-old woman who developed acute renal failure due to nephrocalcinosis, also called acute phosphate nephropathy, after large bowel cleansing in preparation for colonoscopy using oral sodium phosphate solution (Phosphoral, de Witt, Cheshire, UK). Subsequently her renal insufficiency resolved only partially resulting in stage 4 chronic kidney disease. In retrospect multiple risk factors for this condition (hypertension, diuretics, AT-II receptor blocker, female gender, advanced age and volume depleting due to vomiting and nausea) were identified. If these factors had been taken into consideration prior to prescribing this drug, acute and chronic renal failure would have been prevented. Future investigation of potential risk factors and the exact mechanism of this complication is necessary to identify those patients prone to develop this complication. In the meantime prescribing physicians should be made aware of this complication. On the basis of the current state of knowledge the evidence seems to be quite compelling not to prescribe these drugs in patients with one or more associated risk factors. It could even be argued that these drugs should not be prescribed at all. (+info)
Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.
(61/173)
The relationship of amelogenesis imperfecta and nephrocalcinosis syndrome.
(63/173)
AIM: To analyze the prevalence and associated oral findings of nephrocalcinosis in a group of patients affected with amelogenesis imperfecta (AI). The relationship between types of AI and nephrocalcinosis were also evaluated. DESIGN: This study examines patients who were referred to Pediatric Dentistry Department of SDU between the years of 2002-2007 and who, upon clinical and radiological examination, were diagnosed with AI and treated. Patients were offered information about the possibility of nephrocalcinosis syndrome. Patients who agreed to have tests carried out on their renal system were advised to visit the department of nephrology at the clinic. RESULTS: Suspicious radiopacity was observed during renal ultrasonography of a controlled number of patients with hypoplastic type AI. Laboratory results revealed low Ca values (100-300 mg/days) and normal P values (0.4-1.3 g/days). Delayed eruption, gingival hyperplasia, pulp stones and orthodontic problems were also observed in the same patient groups. CONCLUSION: Although renal findings were observed in a few patients, pediatric dentists are the doctors who are the first to have early contact with this patient group. Because of the potential risk of nephrocalcinosis, early diagnosis may offer good prognosis. (+info)
Crystalluric and tubular epithelial parameters during the onset of intratubular nephrocalcinosis: illustration of the 'fixed particle' theory in vivo.
(64/173)