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)

C1q nephropathy is a rare idiopathic glomerulopathy characterized by mesangial deposition of immunoglobulin and complement with C1q dominance or co-dominance, and the absence of clinical and laboratory evidence of systemic lupus erythematosus. Its clinical course is unpredictable and the response to corticosteroid or cytotoxic treatment is variable. Here, we report two cases of C1q nephropathy, one in a child and one in an adult, both presenting with impaired renal function and massive proteinuria. Both patients failed to respond to immunosuppressive medications; however, rituximab, an anti-CD20 antibody, was effective in preserving renal function in one patient and eliminating the need for hemodialysis in the other. In one patient, histologic regression of abnormalities was documented over 3 years post-treatment. Both patients have remained off other immunosuppressive medication for a prolonged period with stable renal function. These cases are, to our knowledge, the first reported successful treatment of C1q nephropathy with rituximab.
 ...
PMID:Resolution of clinical and pathologic features of C1q nephropathy after rituximab therapy. 2110 33

We experienced a case of a 2-year-old boy, who presented with steroid resistant nephrotic syndrome, which developed insidiously. Renal biopsy revealed that he had focal and segmental glomerulosclerosis on light microscopy, dominant mesangial deposition of C1q by immunofluorescent staining, and electron dense deposits on electron microscopy, which are all compatible with C1q nephropathy. He had no clinical sign of any collagen diseases, including systemic lupus erythematodes. So, the diagnosis of C1q nephropathy was made. An intensive treatment by a combination of cyclosporine, prednisolone and methylprednisolone pulse therapy was successful in achieving remission and disappearance of proteinuria in this patient. Although he developed hypertension requiring calcium blocker and angiotensin converting enzyme inhibitor, his renal function stayed within normal limit for 3 years after the initiation of the treatment. The growth was well preserved during the 3 years of treatment with almost unchanged SD scores for height. He has delay in speech, which may not be associated with the etiology of his nephropathy, based on the absence of such association in the previous reports. C1q nephropathy is still a controversial clinical entity, so accumulation of the cases may help further understand the pathogenesis and clinical manifestation of C1q nephropathy.
 ...
PMID:C1q nephropathy in a 2-year-old boy presenting with steroid resistant nephrotic syndrome. 2131 45

We describe a 42-year-old male patient who presented with high grade fever associated with acute renal failure requiring hemodialysis. Renal biopsy revealed that he had focal proliferative glomerulonephritis on light microscopy, dominant mesangial deposition of C1q by immunofluorescent staining, and electron dense deposits on electron microscopy, with no evidence of systemic lupus erythematosus, compatible with the diagnosis of C1q nephropathy. Intensive treatment with a combination of methyl prednisolone pulse therapy and oral prednisolone was successful in achieving complete remission and disappearance of proteinuria in our patient.
 ...
PMID:C1q nephropathy presenting as acute renal failure. 2191 49

Focal segmental glomerulosclerosis is sometimes associated with a circulating permeability factor. It was proposed that this factor interacts with the sugars of the glycocalyx, and its high affinity for galactose was shown on the basis of chromatographic studies. Galactose inactivates it and seems to lead to its clearance from plasma. A toddler with a nephrotic syndrome resistant to corticosteroids was admitted. A renal biopsy revealed minimal change disease with deposition of immunoglobulin M. Immunosuppressive therapy with pulses of cyclophosphamide, low-dose combination immunosuppressive therapy, and later with mycophenolate mofetil failed to induce remission. A renal biopsy six years later showed transformation to FSGS. After unsuccessful treatment with monthly pulses of cyclophosphamide, we began therapy with tacrolimus, which showed no effect. After two months, we added oral galactose to tacrolimus for one month, after which proteinuria decreased by 50%. Seven months later, galactose was again added for six months, after which proteinuria remained below 2 g/24 h and the plasma albumin and cholesterol concentrations normalized. An adolescent girl with a nephrotic syndrome resistant to corticosteroids was admitted. A renal biopsy revealed mesangioproliferative glomerulonephritis with C1q nephropathy. Therapy with tacrolimus failed to induce remission. After six months, we added galactose for three months, which reduced proteinuria to 0.76 g/24 h. After the discontinuation of galactose therapy, proteinuria increased to 2.48 g/24 h, despite further treatment with tacrolimus. It seems that oral galactose at a dose of 0.2 g/kg twice a day could be a promising new and nontoxic therapy for the treatment of resistant nephrotic syndrome.
 ...
PMID:Partial remission of resistant nephrotic syndrome after oral galactose therapy. 2162 74

Originally described as a proliferative glomerulonephritis, C1q nephropathy is nowadays mostly recognized as a variant of focal segmental glomerulosclerosis or minimal change disease. We describe a 30-year-old male patient with nephrotic range proteinuria. Kidney biopsy demonstrated a membranous nephropathy with predominant staining for C1q. Under conservative therapy the outcome was favorable. We suggest that this case represents another variant of C1q nephropathy, thus broadening the spectrum of the disease.
 ...
PMID:Membranous nephropathy with predominance of C1q: another variant of C1q nephropathy? 2259 94

A 19-year-old male presented with persistent macroscopic hematuria for last 3 months. On initial evaluation, he was found to have minimal proteinuria, normal renal function, and normal complement with negative lupus serology. Light microscopy, immunofluorescence and electron microscopy of renal tissue confirmed the presence of C1q nephropathy. Because of poor response to immunosuppressive agent (prednisolone and mycophenolate mofetil), passage of urinary clot once and vexing persistent macroscopic hematuria, alternative diagnosis was considered. Cystourethroscopy showed urethritis of prostatic urethra. Immunosuppressives were stopped and doxycycline started to which hematuria responded dramatically. This case report illustrates that hematuria in this patient was because of undiagnosed urethritis rather than incidental C1q nephropathy.
 ...
PMID:Non-nephronal hematuria misdiagnosed as C1q nephropathy: Look before you leap. 2308 57

Patients presenting with nephrotic syndrome with or without nephritic illness rarely come across with the diagnosis of 'C1q nephropathy'. This entity is purely diagnosed with the help of immunofluorescence like IgA nephropathy. Clinical presentation is heterogenous, ranging from nephrotic range proteinuria to sub-nephrotic state; and with or without hematuria / renal insufficiency. Similarly, the concept of 'C1q nephroapthy' has periodically evolved since its original description by Jenette and Hipp in 1985. Here the pathophysiology, histologic findings / diagnostic and therapeutic options in patients with C1q nephropathy are discussed.
...
PMID:Diverse clinical and histology presentation in c1q nephropathy. 2428 87

C1q nephropathy is a rare glomerular disease with characteristic mesangial C1q deposition noted on immunofluorescence microscopy. It is histologically defined and poorly understood. Light microscopic features are heterogeneous and comprise minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS), and proliferative glomerulonephritis. Clinical presentation is also diverse, and ranges from asymptomatic hematuria or proteinuria to frank nephritic or nephrotic syndrome in both children and adults. Hypertension and renal insufficiency at the time of diagnosis are common findings. Optimal treatment is not clear and is usually guided by the underlying light microscopic lesion. Corticosteroids are the mainstay of treatment, with immunosuppressive agents reserved for steroid resistant cases. The presence of nephrotic syndrome and FSGS appear to predict adverse outcomes as opposed to favorable outcomes in those with MCD. Further research is needed to establish C1q nephropathy as a universally recognized distinct clinical entity. In this paper, we discuss the current understanding of pathogenesis, histopathology, clinical features, therapeutic options, and outcomes of C1q nephropathy.
...
PMID:C1q Nephropathy: The Unique Underrecognized Pathological Entity. 2664 Jul 59

C1q nephropathy is a rare type of glomerulonephritis manifested as the deposition of C1q in the glomerular mesangium during immunofluorescent staining. Systemic lupus erythematosus and type I membranoproliferative glomerulonephropathy need to be excluded in the diagnosis of C1q nephropathy. C1q nephropathy has various manifestations under a light microscope, mainly including minimal change disease, focal segmental glomerulosclerosis, and proliferative glomerulonephritis. This disease is mainly manifested as persistent proteinuria or nephrotic syndrome and occurs more frequently in boys. Currently, glucocorticoids are mainly used for the treatment of this disease. Patients with C1q nephropathy show a good response to immunosuppressant treatment, but have a high rate of glucocorticoid resistance. Therefore, in this case, methylprednisolone pulse therapy or a combination with immunosuppressant treatment helps to achieve a good prognosis.
 ...
PMID:[Advances in clinical research on C1q nephropathy]. 2781 91

Mutations in MYH9 gene encoding the nonmuscle myosin heavy chain IIA (NMMHC-IIA) are related to a number of rare autosomal-dominant disorders which has been known as May-Hegglin disease, Sebastian syndrome, Fechtner syndrome and Epstein syndrome. Their common clinical features are congenital macrothrombocytopaenia and polymorphonuclear inclusion bodies, in addition to a variable risk of developing proteinuria, chronic kidney disease progressing toward end stage, sensorineural deafness and presenile cataracts. The term MYH9 related disease (MYH9-RD) describes the variable expression of a single illness encompassing all previously mentioned hereditary disorders. Renal involvement in MYH9- RD has been observed in 30% of patients. Mutant MYH9 protein, expressed in podocytes, mesangial and tubular cells, plays a main role in foot process effacement and in development of nephropathy. Interestingly, the MYH9 gene is currently under investigation also for his possible contribution to many other non-hereditary glomerulopathies such as focal global glomerulosclerosis (hypertensive nephrosclerosis), idiopathic focal segmental glomerulosclerosis, C1q nephropathy and HIV-associated nephropathy. In this review we are aimed to describe renal diseases related to MYH9 disorders, from the hereditary disease to the acquired disorders, in which MYH9-gene acts as a "renal failure susceptibility gene".
 ...
PMID:[Renal diseases related to MYH9 disorders]. 2868 62


<< Previous 1 2 3 4 Next >>