Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0033687 (proteinuria)
 24,015 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a Caucasian boy of Italian descent with congenital nephrotic syndrome of the Finnish type (NPHS1, CNF, MIM 256300) who developed recurrence of proteinuria and hypoalbuminemia on the seventh post-operative day following living related renal transplantation from his paternal aunt. The allograft biopsy was normal except for effacement of podocyte foot processes on electron microscopy. He was treated by the substitution of mycophenolate mofetil with cyclophosphamide for 12 weeks, in addition to cyclosporine, prednisone and daclizumab. His proteinuria resolved quickly following the initiation of cyclophosphamide treatment, and he remains in remission 4 years after receiving his transplant. His native and allograft kidneys were evaluated for nephrin expression by immunohistochemistry, DNA analysis for the NPHS1 mutation, serum for the presence of auto-antibodies to nephrin by both enzyme-linked immunosorbent assay (ELISA) and fetal glomeruli immunofluorescence assay, and serum for glomerular permeability to albumin (Palb) activity using a functional in vitro assay for Palb. Nephrin expression was completely absent in the native kidney, while it was decreased in the allograft compared with normal. DNA analysis of the NPHS1 gene revealed mutations 3248G>T and 3250delG in exon 24, causing G1083V and 1084Vfs, respectively, inherited from his father, and 3478C>T in exon 27, that leads to R1160X, inherited from his mother. Serum was negative for auto-antibodies to nephrin. Interestingly, the Palb activity was increased at the time of recurrence of proteinuria following transplantation (Palb 0.73+/-0.10) and remained elevated when retested more than 3 years later (Palb 0.54+/-0.09). This is the first report of increased Palb activity in recurrence of proteinuria following transplantation in NPHS1. We speculate the role of increased Palb activity in the recurrence of proteinuria following transplantation in NPHS1.
 ...
PMID:Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type. 1651 27

We describe a 24-year old male patient with systemic lupus erythematosus (SLE) with the gastrointestinal manifestations of protein-losing enteropathy (PLE) and primary sclerosing cholangitis (PSC). He presented with periorbital, scrotal and lower limb oedema. PLE was diagnosed because of hypoalbuminaemia together with an elevation of alpha-1-antitrypsin stool clearance and absence of proteinuria. PSC was diagnosed on the basis of an elevated serum alkaline phosphatase and lymphocytic and fibrous cholangitis. His disease was also complicated by neuropsychiatric lupus and hypogonadism. All the manifestations of SLE resolved with systemic corticosteroids and pulsed cyclophosphamide treatment. This case report documents the unusual association of SLE with PLE and PSC, and this relationship suggests that autoimmunity underlie the pathogenesis of these conditions.
 ...
PMID:Systemic lupus erythematosus with concurrent protein-losing enteropathy and primary sclerosing cholangitis: a unique association. 1653 81

We report a 37-year-old African-American man with systemic lupus erythematosus (SLE) diagnosed in May 2001 when he presented with biopsy-proven nephritis. He had been treated intermittently from May 2001 to November 2004 with intravenously (i.v.) administered cyclophosphamide and high doses of prednisone due to unrelenting proteinuria. In November 2004, he was admitted to the hospital because of deterioration of renal function and massive proteinuria (21 g dl(-1) 24 h(-1)) and treated with pulses of methylprednisolone and two courses of i.v. administered cyclophosphamide. His hospital course was complicated by cellulitis and bacteremia with Pseudomonas spp. and Streptococcus bovis. He was discharged on prednisone 60 mg daily, ciprofloxacin, augmentin, and hemodialysis. He was readmitted a week later with new onset of seizure activity, slurred speech, and left-sided hemiparesis. Magnetic resonance imaging of the brain revealed multiple ringlike enhancing foci in the frontal and occipital lobes. Brain biopsy was performed, and Gram stain and initial cultures were negative. Empiric tobramycin, cefepime, and metronidazole were administered. Diagnosis was delayed for several months, but culture eventually grew Nocardia asteroides. Trimethoprim-sulfomethoxazole and linezolid therapy was begun. This was followed by slow, but steady, clinical improvement. Risk factors, diagnostic clues, and treatment are reviewed.
 ...
PMID:Nocardia brain abscesses in a male patient with SLE: successful outcome despite delay in diagnosis. 1668 77

Secondary amyloidosis is usually a complication of chronic inflammation. Amyloidosis cases during the course of non-Hodgkin's lymphoma (NHL) are usually of AL-type, only one NHL patient with secondary amyloidosis has been reported. Our 79-year-old male patient visited us with multiple lymphadenopathies, and he was diagnosed with nodal marginal zone B-cell lymphoma. After four cycles of combined chemotherapy; his urea, creatinine levels started to increase and he developed nephrotic-range proteinuria. His rectal biopsy demonstrated amyloid deposition in submucosal vessel walls. The patient has been under hemodialysis for 10 months and his lymphoma is still in partial remission. We presented this case because it is the second NHL patient who developed secondary amyloidosis during his disease course.
 ...
PMID:Secondary amyloidosis causing nephrotic syndrome in a patient with non-Hodgkin's lymphoma: quite a rare diagnosis. 1689 66

A 41 year-old male was admitted because of nephrotic syndrome associated with renal impairment and arterial hypertension. Renal biopsy showed a complete subverting of renal architecture with eosinophilic, amorphous deposits which stained positive for Congo red and were positive for antibodies against AA-amyloid. Abdominal fat pad aspirate confirmed the diagnosis of AA amyloidosis. Despite high values of serum amyloid A (SAA), surprisingly medical history, physical examination and all tests failed to identify any underlying inflammatory disease, even asymptomatic, at presentation and during the whole follow-up period. The patient carried a mutation (Glu148Gln) in the MEFV gene, and a mutation (Arg92Gln) in the TNFRSF1A gene, both in heterozygosity. The patient has never complained of the typical features of the Familial Mediterranean fever or of the TNF receptor-associated periodic syndrome. The patient's father carried the same mutations. His father's medical history was unremarkable; renal tests, acute-phase reactants and SAA were normal. During a trial with colchicine (while the patient was also taking atorvastatin) SAA decreased, renal function continued to deteriorate and proteinuria remained high; no cardiac involvement was detected. Six months later our patient developed rhabdomyolysis, thus accelerating the decline of renal function and requiring the start of dialysis.
 ...
PMID:A complex case of renal amyloidosis with a rare co-occurrence of 2 mutations in separate hereditary periodic fever syndrome-related genes. 1704 17

A 70 year old man presented with microscopic haematuria and proteinuria and a fever five months after having a transurethral resection of the prostate (TURP). Initially urological review was arranged as the family doctor thought that a urinary infection was the most likely diagnosis. The patient was concerned that he was not getting better and he self-referred to a physician. He had continuing fever, weight loss, and malaise. The physician detected a mitral pan-systolic murmur that had not been heard before. On the basis of this finding infective endocarditis was suspected and investigations begun. His subsequent course and its management are discussed in an interactive case presentation.
 ...
PMID:Learning on the Web. Case 5: infective endocarditis. 1716 10

A 16-month-old boy was admitted to the clinic because of vomiting and growth failure. His weight and height measurements were under the fifth percentile. He had fair hair and skin, enlarged wrists and rachitic rosaries. The presence of metabolic alkalosis, hypokalemia, hypochloremia, and high renin and aldosterone levels were suggestive of Bartter syndrome. However, in view of the growth failure, fair hair and skin, proteinuria, polyuria and active rickets, cystinosis was considered. Bone marrow smear examination was normal, despite the existence of suspicious crystals in the cornea. Cystine crystals were seen in the conjunctiva biopsy and increased leukocyte cystine level was measured; therefore, definitive cystinosis diagnosis was made. Renal Fanconi syndrome with metabolic acidosis is prominent in cystinosis; however, in rare instances, if sodium-dependent trans-tubular transport defect is present, patients could have Bartter syndrome findings such as hypochloremic metabolic alkalosis. Our case is a good example demonstrating that metabolic alkalosis should not exclude cystinosis and the other signs and symptoms of the patient should be thoroughly evaluated.
 ...
PMID:A patient with cystinosis presenting transient features of Bartter syndrome. 1717 73

A 27-year-old Hispanic man with hypertension and renal failure was on hemodialysis for 4 years prior to receiving a living donor renal transplant from his 19-year-old sister. His serum creatinine decreased to 1.7 mg/dL at 3 weeks posttransplant with a urine protein creatinine ratio (UP) of 0.1 (g/g). Over the next 2 months, he experienced repeated episodes of allograft dysfunction with elevation of creatinine and proteinuria levels, associated with a lymphocele. Doppler studies of the allograft revealed renal vein compression. His symptoms responded to aspiration of the fluid collection, resolving completely with surgical drainage. We believe that the episodes of allograft dysfunction and proteinuria were related to recurrent lymphocele, causing a nutcracker-like syndrome.
 ...
PMID:Reversible renal allograft dysfunction and proteinuria from nutcracker-like syndrome: a case report. 1758 Feb 20

We report the exercise capacity of an 8-year-old boy with clinical, histological, biochemical, and genetic evidence of McArdle disease. The patient presented with severe myalgia, proteinuria, hematuria, pyrexia, and elevated creatine kinase after swimming. After pre-exercise ingestion of sucrose, he performed treadmill exercise to symptom limitation. His peak oxygen uptake (18.8 mL/kg/min) and ventilatory threshold (16.0 mL/kg/min) were reduced by 40% and 20% compared with healthy age-matched and gender-matched controls. The results suggest that exercise capacity is reduced early in life in patients with McArdle disease and suggest the need for prophylactic exercise training (following pre-exercise feeding to prevent rhabdomyolysis) to minimize deconditioning.
 ...
PMID:Exercise capacity in a child with McArdle disease. 1771 83

Acute tubulo-interstitial nephritis (ATIN) is an important cause of acute renal failure resulting from a variety of insults, including immune complex-mediated tubulo-interstitial injury, but drugs such as non-steroidal anti-inflammatory drugs (NSAIDs) are a far more frequent cause. Overall, as an entity, ATIN remains under-diagnosed, as symptoms resolve spontaneously if the medication is stopped. We report on a 14-year-old boy who developed acute renal failure 2 weeks after aortic valve surgery. He was put on aspirin following surgery and took ibuprofen for fever for nearly a week prior to presentation. He then presented to the emergency department feeling quite ill and was found to have a blood urea nitrogen (BUN) concentration of of 147 mg/dl, creatinine of 15.3 mg/dl and serum potassium of 8.7 mEq/l. Dialysis was immediately initiated. A kidney biopsy showed inflammatory infiltrate consistent with ATIN. However, in the tubular basement membrane (TBM), very intense granular deposits of polyclonal IgG and C3 were noted. He needed dialysis for 2 weeks and was treated successfully with steroids for 6 months. His renal recovery and disappearance of proteinuria took a year. In conclusion, this is a first report of NSAIDs-associated ATIN, showing deposits of granular immune complex present only in the TBM and not in the glomeruli.
 ...
PMID:Non-steroidal anti-inflammatory drugs-associated acute interstitial nephritis with granular tubular basement membrane deposits. 1787


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>