Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020438 (hypercalciuria)
 2,502 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report two patients with systemic lupus erythematosus (SLE) who were found to have complete (acidotic) distal renal tubular acidosis (DRTA). One patient had nephrocalcinosis and renal magnesium wasting with tetany; the other patient had nephrolithiasis and nephrotic syndrome secondary to membranous glomerulopathy. Both patients had decreased urinary citrate excretion but neither had hypercalciuria. We discuss the association of DRTA with immunologic disorders and the possible role of hypocitraturia in promoting renal calcification in these patients. We suggest that patients with renal calcification be evaluated for DRTA, and that patients found to have DRTA be further evaluated for signs, symptoms, and laboratory evidence of immunologic disorders.
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PMID:Complete distal renal tubular acidosis in systemic lupus: clinical and laboratory findings. 402 29

Nephrologists and urologists are frequently faced with patients with asymptomatic isolated microhaematuria (AIMH). This entity is defined as the presence of more than 5 red cells/uL in the sediment of first morning urine, in the absence of symptoms by the urinary tract and in the absence of proteinuria. From 201 children who were referred on the clinical examinations on the Pediatric Clinic in Sarajevo under the diagnosis haematuria in period from 01/01/1997 until 31/08/2002, 87 had AIMH. Age of life was from 0 to 16 years (mean 8 years). Fourteen children (16.1%) had a hypercalciuria, 10 (11.5%) had a state after purpura Henoch-Schonlein nad scarlatine, while 6 (6.9%) had glomerulopathy. Five children (5.7%) had anomalies of urinary system, 5 (5.7%) had evidence of nephrolithiasis, while 4 (4.6%) had asymptomatic urinary tract infection. Cause out of urinary system was found in 29 children (33.3%) and for 14 children (16.1%) etiology remained unknown. Transient microhaematuria was noted in 43 children (49.4%), recurrent in 37 (42.5%) and persistent in 7 (8.1%). Renal biopsy was performed in 5 children (5.7%) because of indications of glomerular disease and all of them had glomerular lesions. Sixty nine children of these 87 were followed up from 2 to 11 years (mean period of 3 years) and none of them developed hypertension or renal impairment. Most patients who have AIMH do not have clinically significant glomerular pathology and they don't need renal biopsy, but only periodic follow up. Any degree of proteinuria accompanying haematuria should be fully investigated, as proteinuria is often a sign of serious renal disease.
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PMID:[Asymptomatic isolated microhaematuria--a reason for concern?]. 1642 27

Sarcoidosis is one of the granulomatus disorders affecting many organ systems of the body. Renal impairment in sarcoidosis is rare and occurs usually as a result of long standing hypercalcemia or hypercalciuria with nephrocalcinosis or renal stones. Sarcoid glomerulopathy and tubulo-interstitial granulomatus involvement have been described. We report two cases of sarcoidosis, the first with interstitial nephritis and anterior uveitis without evidence of granuloma. The patient was normocalcemic and normocalciuric. The second case presented with nephritic range proteinuria and severe renal insufficiency with a history of recurrent parotid swelling seven years before diagnosis. Renal biopsy showed non-caseating granulomas in the tubulo-interstitial region. Both patients showed good response to steroid therapy, however, there is still residual renal insufficiency six months after therapy. In conclusion, renal sarcoidosis although a rare presentation, should be considered in the presence of extra-renal manifestation of sarcoidosis as it is amenable to treatment.
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PMID:Sarcoidosis with partial reversibility of renal failure: two case reports with review of literature. 1840 17

Dent disease is a rare genetic proximal tubulopathy which is under-recognized. Its phenotypic heterogeneity has led to several different classifications of the same disorder, but it is now widely accepted that the triad of symptoms low-molecular-weight proteinuria, hypercalciuria and nephrocalcinosis/nephrolithiasis are pathognomonic of Dent disease. Although mutations on the CLCN5 and OCRL genes are known to cause Dent disease, no such mutations are found in about 25-35% of cases, making diagnosis more challenging. This review outlines current knowledge regarding Dent disease from another perspective. Starting from the history of Dent disease, and reviewing the clinical details of patients with and without a genetic characterization, we discuss the phenotypic and genetic heterogeneity that typifies this disease. We focus particularly on all those confounding clinical signs and symptoms that can lead to a misdiagnosis. We also try to shed light on a concealed aspect of Dent disease. Although it is a proximal tubulopathy, its misdiagnosis may lead to patients undergoing kidney biopsy. In fact, some individuals with Dent disease have high-grade proteinuria, with or without hematuria, as in the clinical setting of glomerulopathy, or chronic kidney disease of uncertain origin. Although glomerular damage is frequently documented in Dent disease patients' biopsies, there is currently no reliable evidence of renal biopsy being of either diagnostic or prognostic value. We review published histopathology reports of tubular and glomerular damage in these patients, and discuss current knowledge regarding the role of CLCN5 and OCRL genes in glomerular function.
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PMID:Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon. 3286 May 33