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)

Glucocorticoids (GCs) exert different activities that are useful for the treatment of several haematologic disorders. The synergistic effect with cytotoxic drugs is important for the therapy of lymphoproliferative diseases. The inhibition of macrophages prevents acute haemolysis and platelets destruction in autoimmune disorders; moreover GCS are the most important agents for the management of vasculitis complicating cryoglobulinaemia. Deflazacort (DFZ) has similar immunomodulating effects to other GCs but, by contrast, DFZ produces less hypercalciuria and hyperglycaemia than prednisone and dexamethasone. As a result, the adverse effects of prolonged treatment are less with deflazacort. In this paper we report the results obtained with DFZ containing treatment in 27 patients affected by haematological disorders: 12 patients with advanced low or intermediate grade non Hodgkin's lymphoma submitted to 6 courses of combination chemotherapy, 10 patients with acute idiopathic thrombocytopenic purpura and 5 patients with vascular purpura secondary to type 2 cryoglobulinaemia. DFZ was substituted for prednisone or 6-methylprednisolone at a dose calculated in accordance with the PDN: DFZ ratio of 0.78. The results were in accordance within what would be expected with standard treatments containing conventional GCs, whereas in most patients, the side-effects were negligible.
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PMID:Deflazacort in the treatment of haematologic disorders. 831 30

Patients with co-occurrence of two independent pathologies pose a challenge for clinicians as the phenotype often presents as an unclear syndrome. In these cases, exome sequencing serves as a powerful instrument to determine the underlying genetic causes. Here, we present the case of a 4-year old boy with proteinuria, microhematuria, hypercalciuria, nephrocalcinosis, livedo-like rash, recurrent abdominal pain, anemia and continuously elevated CRP. Single exome sequencing revealed the pathogenic nonsense mutation p.(Arg98*) in the CLCN5 gene causing the X-linked inherited, renal tubular disorder Dent's disease. Furthermore, the two pathogenic and compound heterozygous missense variants p.(Gly47Ala) and p.(Pro251Leu) in the CECR1 gene could be identified. Mutations in the CECR1 gene are associated with a hereditary form of polyarteritis nodosa, called ADA2-deficiency. Both parents were carriers of a single heterozygous variant in CECR1 and the mother was carrier of the CLCN5 variant. This case evidently demonstrates the advantage of whole exome sequencing compared to single gene testing as the pathology in the CECR1 gene might have only been diagnosed after the occurrence of signs of systemic vasculitis like strokes or hemorrhages. Therefore, treatment and prevention can now start early to improve the outcome of these patients.
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PMID:Identification of co-occurrence in a patient with Dent's disease and ADA2-deficiency by exome sequencing. 2939 Dec 72

Renal involvement is rare in systemic sarcoidosis. Among renal manifestations, tubulointerstitial nephritis (TIN) is the most commonly reported finding. We conducted the current study to investigate the clinical, laboratory, and histological features and to analyze the outcome of TIN due to sarcoidosis. We present a retrospective, single-center study of patients followed for sarcoidosis and presenting with TIN related to this systemic disease. Twenty-four patients were assessed (22 females/2 males). The mean age at diagnosis of TIN was 46.3 years. Extrarenal manifestations were dominated by thoracic involvement (95.8%), peripheral lymph nodes (54.2%), and skin lesions (33.3%). The mean proteinuria level was 0.68 g/24 h. Renal failure was diagnosed in 83.3% of cases with a median estimated glomerular filtration rate at 14.3 mL/min/1.73 m2. Nine patients presented with hypercalcemia and 12 patients with hypercalciuria. Renal biopsy was performed in 58.3% of cases. Six of the 14 patients presented with noncaseating granulomatous interstitial nephritis and eight with interstitial nephritis without granuloma. Granulomatous infiltration of renal parenchyma was complicated by vasculitis in two cases. Corticosteroid therapy was used in all patients. On follow-up analysis, four patients progressed to end-stage renal disease (ESRD) after a mean duration at 45.5 months. In the remaining patients, kidney function statistically significantly improved after one month of treatment compared to the time when the diagnosis was initially established (P = 0.031). We found that the predictive factors of progression to ESRD were multiorgan involvement (P = 0.032), advanced fibrosis F3 (P = 0.0006), and extensive interstitial granulomas (P = 0.007) and these were independently correlated with ESRD. Corticosteroid therapy seems to be effective in sarcoid TIN, but some degree of persistent renal failure is possible which can be predicted from both histologic findings and initial response to steroid therapy.
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PMID:Tubulointerstitial nephritis due to sarcoidosis: Clinical, laboratory, and histological features and outcome in a cohort of 24 patients. 3192 74