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

A 30-year-old woman with hereditary onycho-osteodysplasia was examined. In addition to the classic tetrad of fingernail and toenail dysplasia, patellar aplasia, iliac horns, and radial head hypoplasia and dislocation, she also had scoliosis, proteinuria, and distinctive bilateral foot anomalies. The foot deformity consisted of a ball-and-socket ankle joint, valgus ankle, forefoot supination, and lateral subluxation at the tarsal-metatarsal joints. The literature showed that the radiographic findings of foot deformity in this dysplasia have never been reported in detail before. Evidence suggests that this distinctive pattern of deformity may be more common than previously appreciated.
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PMID:Foot deformity in hereditary onycho-osteodysplasia. 296 67

Excessive monoclonal light chain production and excretion may result in a variety of renal diseases which may collectively or individually be referred to as light chain nephropathy. Kappa light chains are more likely to produce tubular dysfunction and nodular nonamyloidotic glomerulosclerosis, while lambda light chains are more likely to be involved in the development of amyloidosis. The physicochemical reasons for this segregation are poorly understood. Affected patients may present with minor tubular dysfunctions, acute or chronic renal failure, mild proteinuria, or severe nephrotic syndrome. Underlying each is a dyscrasia of plasma cells or frank multiple myeloma with excessive production of monoclonal light chains. Electron microscopy and immunofluorescence studies of renal biopsies have been critical in defining these nephropathies and continue to be essential in establishing the diagnosis.
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PMID:Immunoglobulin light chain nephropathies. 312 Jan 37

A 32-year-old male with renal retinal dysplasia is presented. He also showed hearing loss and growth retardation. Laboratory data showed mild proteinuria, renal dysfunction and type-1 renal tubular acidosis. Computed tomography showed multiple cysts at the corticomedullary junction of both kidneys. Ocular examinations disclosed retinitis pigmentosa. On light microscopy of renal biopsy specimens, diffuse cystic dilatation of Bowman's space as well as dilated tubules with interstitial fibrosis and cellular infiltration were noted. Electron microscopy revealed a peculiar chromatin condensation of epithelial cell nuclei in Bowman's capsules, glomeruli and tubules. The association of renal retinal dysplasia with diffuse glomerular cysts has not, to our knowledge, been previously reported.
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PMID:Renal retinal dysplasia with diffuse glomerular cysts. 397 82

A boy with asphyxiating thoracic dysplasia was studied from age seven months until his death with congestive heart failure at age thirteen months. Aminoaciduria, phosphaturia, increased urate excretion, hyposthenuria, proteinuria, and metabolic acidosis were demonstrated at one year of age. Cardiopulmonary dysfunction and skeletal abnormalities were also studied during life. Cessation of linear growth, overgrowth of membranous bone with retardation of enchondral bone formation, and cartilaginous overgrowth of the chest were prominent findings. At autopsy, an unexpected hepatic fibrosis was discovered, along with renal and skeletal disorganization.
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PMID:A renal lesion in asphyxiating thoracic dysplasia. 447 Sep 7

The nail--patella syndrome is a rare, inheritable disease of the connective tissue in which multiple osseous abnormalities are associated with dysplasia of the nails. Renal dysfunction is found in 25--42% of cases and varies from asymptomatic proteinuria to renal failure. This paper describes a patient with nail--patella syndrome and terminal renal disease requiring transplantation.
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PMID:Nail--patella syndrome associated with renal failure requiring transplantation. 616 20

A 55-year-old man presented with nerve compression and examination of tissue removed by laminectomy, and bone marrow aspiration was diagnostic of multiple myeloma. Protein studies showed a total serum protein of 5.7 g/dL, with a M-component in the fast beta region. The abnormal protein reacted only with anti-lambda antisera but not with antisera from multiple sources in four different laboratories, against known heavy chain and kappa-chain determinants. A marked difference in potency of commercial anti-lambda antisera was noted. The reaction was primarily demonstrable in serum and present only in 100-times concentrated urine. Gel filtration disclosed a molecular weight of 84,000. The patient has been followed for the past four years and has not demonstrated significant proteinuria. The English and Japanese literature records seven cases of tetrameric Bence Jones multiple myeloma or plasma cell dyscrasia. This case appears to be the eighth recorded cases of tetrameric Bence Jones proteinemia, the fifth case without proteinuria, and the fifth case involving lambda light chains.
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PMID:Polymeric (presumed tetrameric) lambda Bence Jones proteinemia without proteinuria in a patient with multiple myeloma. 643 10

Nine patients (2.2%) in a group of 415 who were followed in a longitudinal prospective study of systemic lupus erythematosus (SLE) were found to have various monoclonal (M) proteins in their blood (IgG [6 patients], IgA [2 patients], IgM [1 patient]). No other findings compatible with plasmacytic dyscrasia were found. Bence Jones proteinuria was absent. Bone marrow aspirates and skeletal radiographs did not reveal any associated features of malignancy. Four of the 9 patients were under the age of 50. From the point of view of the M components, 3 groups emerged: transient (2 patients), persistently stable (6 patients), and increasing serum concentrations (1 patient). Using current measures of disease status, no correlation was apparent between the presence, type, and concentration of the M protein and the clinical and laboratory variables of lupus activity. Thus, M proteins were found in 2% of our SLE patients, but their relationship to the polyclonal B cell activation seen in this disorder, or perhaps to therapeutic modalities used in its treatment, remains to be elucidated.
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PMID:Systemic lupus erythematosus with paraproteinemia. 661 Apr 25

A patient with primary amyloidosis had infiltration of liver, bone and bone marrow and a nephrotic syndrome with massive proteinuria. In addition, there was evidence for a plasma cell dyscrasia with an increased number of plasma cells and other lymphoreticular cell elements in the bone marrow and an impairment of immunoglobulin synthesis without M-gradient. The course of disease was observed over a period of five years. The patient was treated intermittently with a combination of penicillamine, melphalan, fluocortolone and fluoxymesterone. Under treatment the nephrotic syndrome disappeared and liver size decreased. Hemopoiesis remained sufficient but bone marrow infiltration by amyloid did not respond to therapy and massive osteoporosis developed. Comparison of our with other reported cases treated with the same regime suggests that response to this treatment may be influenced by factors such as sex and clinical manifestation of the disease.
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PMID:[Primary amyloidosis with nephrotic syndrome: 5 year follow-up under polychemotherapy. A case report (author's transl)]. 745 5

Angiotensin converting enzyme (ACE) inhibitors are extensively used for the treatment of hypertension, to decrease proteinuria, and to mitigate hyperfiltration. These drugs now have been shown to be fetotoxic causing profound fetal hypotension, renal tubular dysplasia, anuria-oligohydramnios, growth restriction, hypocalvaria, and death when used in the second and third trimesters of pregnancy. We recommend that ACE inhibitors not be used in pregnancy. However, if a child is born with ACE inhibitor fetopathy, aggressive therapy with dialysis to remove the inhibitor may mitigate the profound hypotensive effects. Therapy will depend on the specific ACE inhibitor, and care recommendations cannot be generalized for the entire class of drugs as their protein binding and volume of distribution differ substantially.
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PMID:Recognition and management of angiotensin converting enzyme inhibitor fetopathy. 763 38

Branchio-oto-renal syndrome is an inborn disease of autosomal dominant transmission and variable expression. The syndrome associates ear pits, branchial cleft fistulas or cysts, deafness and renal anomalies heavily compromising prognosis. We report four adults (2 males, 2 females) in three different families with branchio-oto-renal syndrome. All 4 probands were seen for renal failure, with hematuria in 2 and proteinuria in the 2 others. Among the 62 family members examined 19 had at least one sign of branchio-oto-renal syndrome. Four pregnancies were followed during the course of the study, only one reached term. The frequency of branchio-oto-renal syndrome is probably underestimated. Prevalence has been estimated at 1/40,000 births. It accounts for 2% of the cases of severe deafness in children. Neck and ear morphology should therefore be carefully examined in patients with renal or urinary tract dysplasia. Women with a mild form of the disease with moderate renal failure may give birth to an infant with very severe renal failure leading to death either in infancy or in utero due to severe renal agenesia or hypoplasia.
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PMID:[Branchio-oto-renal syndrome. 4 cases in three families]. 763 14


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