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 reviewed the clinical features in 7 boys with asymptomatic low molecular weight proteinuria. The disease had first been reported by us in 1980. The distinctive features common to all patients were male dominance, asymptomatic proteinuria with a large amount of low molecular weight proteins, normal development and growth, normal renal function tests in childhood, and minimal histological changes in renal biopsy specimens. In 1990, 35 cases have been reported in Japan. Thus, asymptomatic low molecular weight proteinuria is not a rare disease and is one of the causes of isolated proteinuria. Furthermore, this condition is recognized as a new entity.
 ...
PMID:Asymptomatic low molecular weight proteinuria in children. 208 72

Allergic granulomatous angiitis (AGA) is a rare disease, which varies in clinical manifestation. The clinical course includes three stages. In the first stage most of the patients show symptoms of respiratory disease, 82 per cent of the patients has asthma and 88 per cent chronic rhinitis. In the second stage there is blood eosinophilia and in the last stage involvement of multiple organs. The etiology is not yet clear. Since 1982 four cases of AGA have been encountered in PUMC Hospital, but they were all diagnosed after 1988. All were male and aged 36-54 years. Two of them had asthma history and three enlargement of liver and proteinuria, ECG showed heart block in two, all four had neuromuscular and cutaneous involvement and elevated blood eosinophil with absolute number ranging from 1254 to 8104/mm3. Biopsy from different sites showed panangiitis associated with eosinophil infiltration and/or granulomatosis formation. All were sensitive to prednisone therapy with or without CTX after treatment the absolute eosinophil count in the four patients was less than 1000/mm3 and the symptoms alleviated.
 ...
PMID:[Allergic granulomatous angiitis]. 815 41

The authors describe their experience with the treatment of nine patients where "essential" mixed cryoglobulinaemia was diagnosed. In addition to extrarenal symptoms all suffered from proliferative glomerulonephritis, most frequently mesangiocapillary. The latter was manifested in most instances during the first examination by nephrotic syndrome and reduced glomerular filtration. Two patients had only asymptomatic proteinuria with erythrocyturia. The majority suffered from arterial hypertension. The patients were treated with prednisone and cyclophosphamide, using initial doses after which the extrarenal symptoms receded promptly. Regression of proteinuria and normalization of glomerular filtration developed more slowly. Only in one patient the glomerulonephritis had a progressive course and terminated by chronic renal failure. One patient died from septicaemia and one from cardiac failure. The authors assume that early diagnosis and effective combined immunosuppression can ensure a favourable course of this rare disease.
 ...
PMID:[Essential mixed cryoglobulinemia and the kidneys]. 837 67

Frasier syndrome (FS) is a rare disease defined by male pseudo-hermaphroditism and progressive glomerulopathy. Patients present with normal female external genitalia, streak gonads and XY karyotype and frequently develop gonadoblastoma. Glomerular symptoms consist of childhood proteinuria and nephrotic syndrome, characterized by unspecific focal and segmental glomerular sclerosis, progressing to end-stage renal failure in adolescence or early adulthood. No case of Wilms' tumour has been reported, even in patients with extended follow-up. In contrast with FS patients, most individuals with Denys-Drash syndrome (DDS; refs 6,7) have ambiguous genitalia or a female phenotype, an XY karyotype and dysgenetic gonads. Renal symptoms are characterized by diffuse mesangial sclerosis, usually before the age of one year, and patients frequently develop Wilms' tumour. Mutations of the Wilms'-tumour gene, WT1, cause different pathologies of the urogenital system, including DDS. WT1 is composed of ten exons and encodes a protein with four zinc-finger motifs and transcriptional and tumour-suppressor activities. Alternative splicing generates four isoforms: the fifth exon may or may not be present, and an alternative splice site in intron 9 allows the addition of three amino acids (KTS) between the third and fourth zinc fingers of WT1 (ref. 17). Here we demonstrate that FS is caused by mutations in the donor splice site in intron 9 of WT1, with the predicted loss of the +KTS isoform. Examination of WT1 transcripts indeed showed a diminution of the +KTS/-KTS isoform ratio in patients with FS.
 ...
PMID:Donor splice-site mutations in WT1 are responsible for Frasier syndrome. 939 52

IgE multiple myeloma is a rare disease characterized by a high frequency of Bence-Jones proteinuria and plasma cell leukaemia when compared to other isotypes of monoclonal proteins. Only 35 cases have been reported. We describe a 70-year-old woman with a stage III IgE kappa multiple myeloma presenting with a sacral plasmacytoma. Immunological and biochemical studies showed IgE kappa producing tumoral plasma cells. Serum total IgE was high without clinical symptoms suggesting an hyperIgE syndrome or mast cell activation. The patient underwent surgical removal of the sacral tumor and monthly melphalan-prednisone treatment together with intravenous pamidronate infusions. Magnetic Resonance Imaging (MRI) of the dorsolumbar spine revealed an epidural process leading to T6-T9 radiotherapy. Bone densitometry showed a decreased bone mineral content supporting the management of myeloma-related osteoporosis with bisphosphonate infusions. A good partial response with plateau-phase and increase of bone mineral content was achieved after 1 year of treatment and still persists after a 28 months follow-up.
 ...
PMID:IgE multiple myeloma. 1004 34

Lipoprotein glomerulopathy (LPG) is a rare disease, characterized by a special histology, including dilated glomerular capillaries filled with pale-stained and meshlike lipoprotein thrombi. It always presents with proteinuria or nephrotic syndrome. Although hyperlipidemia is not always seen, most patients have type III hyperlipoproteinemia with apolipoprotein (apo) E2/3 phenotyping. Although the clinical feature of LPG is rarely described, LPG associated with other glomerulopathy, including IgA nephropathy, membranous nephropathy, and lupus nephritis, has been documented. Until now, there have been no reports of psoriasis vulgaris associated with LPG. The authors present 2 cases of LPG with apo E3/3 genotyping associated with psoriasis vulgaris. The first patient was a 65-year-old woman who presented with nephrotic syndrome with daily urinary protein loss of 9.05 g and itchy erythematous scaly plaques on her trunk and lower limbs for 1 year. The renal biopsy results showed LPG, and the skin biopsy results showed psoriasis. The second patient was a 50-year-old man with history of psoriasis over his trunk and 4 limbs for 30 years. He also presented with nephrotic syndrome with daily urinary protein loss of 7.55 g. The renal biopsy results also showed LPG. The genotype of apo E showed E3/3, and lipoprotein electrophoresis showed a type III hyperlipoproteinemia-like pattern in both cases. The authors suggest that presence of apo E3/3 genotype cannot rule out the diagnosis of type III hyperlipoproteinemia and LPG. Besides, LPG should be included in the differential diagnosis of psoriatic patients with nephrotic syndrome, especially in Asian patients who show poor response to traditional therapy. Renal biopsy should be performed to make the definitive diagnosis.
 ...
PMID:Lipoprotein glomerulopathy associated with psoriasis vulgaris: report of 2 cases with apolipoprotein E3/3. 1295 7

Mitochondrial disorder is a relatively rare disease during childhood. Previous studies concluded that renal complications in this disease most often occur in patients with mitochondrial encephalomyopathies. We describe a boy with mitochondrial disease who presented with proteinuria while lacking neuromyopathy. Proteinuria was detected at the age of 6 years, including large amounts of low-molecular-weight proteins such as beta(2)- and alpha1-microglobulin. Renal functions were normal. Proximal tubular dysfunction and other renal manifestations were absent. Episodic neurologic problems such as migraine and nervous system diseases including epilepsy, depression, schizophrenia and amytrophic lateral sclerosis (ALS) were found in the boy's family members. Renal tubular basement membrane atrophy and interstitial fibrosis with mononuclear cell infiltration were observed. Ultrastructural examination showed mitochondria, mainly in the proximal tubules, which varied in size and had disoriented cristae. Mutation analysis using mitochondrial DNA (mtDNA) extracted from renal tissues demonstrated a A-->G point mutation at nucleotide position 3243 in the tRNA(Leu(UUR)) gene, while there was no mutation found in mtDNA extracted from peripheral leukocytes. Awareness among pediatricians of mitochondrial disorders, detection of low-molecular-weight proteinuria, renal ultrastructural examination and mutation analysis of mtDNA obtained from renal tissues could be important for early diagnosis of this disease.
 ...
PMID:A boy with mitochondrial disease: asymptomatic proteinuria without neuromyopathy. 1464 37

Dent's disease is an inherited tubulopathy caused by a mutation in the CLCN5 chloride channel gene. It is characterized by low-molecular weight proteinuria, hypercalciuria, nephrolithiasis or nephrocalcinosis, rickets and eventual-progressive renal failure. Onset of clinical symptoms show a great variability, making a diagnosis at an early stage of the disease often difficult. Given the variably clinical picture, genetic analysis can provide a reliable method to confirm the diagnosis. Here, we report on the case of a patient with progressive renal failure showing signs of a tubular lesion and symptoms of Dent's disease. Although this rare disease was suspected by means of the clinical features, it was genetic analysis that confirmed the diagnosis and revealed a novel mutation in the CLCN5 gene.
 ...
PMID:Dent's disease: identification of a novel mutation in the renal chloride channel CLCN5. 1557 Nov 86

We report the case of a patient with eosinophilic fasciitis, a rare disease related to systemic sclerodermia and other fibrosing disorders. An involvement of the kidneys--like in this patient with proteinuria and hypoproteinemia--has been described in the literature but is very rare. We discuss diagnostic procedures and novel therapeutic options as combination therapies with steroids, methotrexate and ciclosporine A.
 ...
PMID:[Arthralgia, eosinophilia, proteinuria and diuretics-resistant leg edemas]. 1560 13

Apolipoprotein A-I amyloidosis is a rare, late-onset, autosomal dominant condition characterized by systemic deposition of amyloid in tissues, the major clinical problems being related to renal, hepatic, and cardiac involvement. Described is the clinical and histologic picture of renal involvement as a result of apolipoprotein A-I amyloidosis in five families of Italian ancestry. In all of the affected family members, the disease was caused by the Leu75Pro heterozygous mutation in exon 4 of apolipoprotein A-I gene, as demonstrated by direct sequencing and RFLP analysis. Immunohistochemistry confirmed that amyloid deposits were specifically stained with an anti-apolipoprotein A-I antibody. The clinical phenotype was mainly characterized by a variable combination of kidney and liver disturbance. The occurrence of renal involvement seemed to be almost universal, although its severity varied greatly ranging from subclinical organ damage to overt, slowly progressive renal dysfunction. The renal presentation was consistent with a tubulointerstitial disease, as suggested by the findings of defective urine-concentrating capacity, moderate polyuria, negative urinalysis, and mild tubular proteinuria. Histology confirmed tubulointerstitial nephritis. Surprising, amyloid was restricted to nonglomerular regions and limited to the renal medulla. This location of apolipoprotein A-I amyloid differs sharply from other systemic amyloidoses that are mainly characterized by glomerular and vascular deposits. The tubulointerstitial nephritis as a result of hereditary apolipoprotein A-I amyloidosis is a rare disease and a challenging diagnosis to recognize. Patients who present with familial tubulointerstitial nephritis associated with liver disease require a high index of suspicion for apolipoprotein A-I amyloidosis.
 ...
PMID:Renal apolipoprotein A-I amyloidosis: a rare and usually ignored cause of hereditary tubulointerstitial nephritis. 1622 67


1 2 3 4 5 Next >>