Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 10-year-old Turkish boy with consanguineous parents was presented with a disproportionately short stature and a nephrotic syndrome. The mild form of Schimke's immuno-osseous dysplasia was diagnosed as the common cause. This rare, autosomal recessive osteochondrodysplasia is characterised by spondyloepiphyseal dysplasia, facial dysmorphism, T-cell immunodeficiency and progressive renal failure due to focal segmental glomerulosclerosis. In Schimke's immuno-osseous dysplasia, a severe early-onset form and a milder later-onset form can be distinguished on the basis of the clinical course. The patient was treated by fluid and salt restriction, enalapril and later also losartan, which led to a decrease in the proteinuria and an increase in serum albumin concentration. Two years later, the renal function was still normal.
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PMID:[Schimke's immuno-osseous dysplasia as an explanation for the rare combination of disproportionately short stature and the nephrotic syndrome]. 1622 78

Approximately 10% of adult patients with human immunodeficiency virus (HIV) infection have HIV-associated nephropathy (HIVAN). This condition, a leading cause of renal failure, is characterized by damage to specific areas of the renal filtration system. It manifests with increased serum creatinine levels, overt proteinuria, and in some patients, end-stage renal disease (ESRD). The mortality rate for HIVAN-related ESRD is high-30% within the first year of onset. Most instances of HIVAN occur in patients of African descent. Although advances in defining the pathology have been made, the optimal treatment strategy remains unclear. Potential benefits of potent combination antiretroviral therapy, angiotensin-converting enzyme (ACE) inhibitors, and corticosteroids have been reported in small clinical trials and case reports. Cyclosporine is another option, but clinical experience with this agent in managing HIVAN is limited. Few conclusions can be drawn from the limited body of available evidence. Antiretroviral therapy, ACE inhibitors, and corticosteroids are possibly associated with reversal of serum creatinine level increases and proteinuria, but studies are necessary to further define the role of these agents in therapy. Close monitoring is advised when treating any patient with HIVAN.
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PMID:Pharmacotherapy for human immunodeficiency virus-associated nephropathy. 1630 96

Human immunodeficiency virus (HIV)-associated nephropathy (HIVAN) is an important cause of renal failure in those of African origin. A number of other kidney diseases occur in HIV-positive patients. We conducted a retrospective review of renal biopsies in HIV-positive Black African patients to determine the prevalence of both 'classic HIVAN' and non-HIVAN pathologies in this group. Clinical and laboratory data from HIV-positive patients who underwent renal biopsy from 1st January 2003 to 31st December 2004 were collected. Similar information on HIV-negative patients biopsied during the same period was also recorded by way of comparison to try and assess the influence of the virus on renal histologic patterns. HIV-positive group - 99 biopsies were suitable for study. The main histologic categories were 'classic HIVAN' (27%) and HIV immune complex kidney disease ('HIVICK') (21%). The subepithelial immune deposits in 'HIVICK' induced a newly described 'ball-in-cup' basement membrane reaction. Other glomerulonephritides included membranous, post-infectious disease, mesangial hyperplasia, and immunoglobulin A nephropathy. Overlapping clinical presentations prevented pre-biopsy histologic predictions. HIV-negative group - There were no examples of collapsing focal segmental glomerulosclerosis or nonspecific immune complex disease, but increased numbers of minimal change and membranoproliferative disease. 'Classic HIVAN' accounted for less than a third of the nephropathies occurring in HIV-positive Black South Africans. 'HIVICK' is another important cause of chronic kidney disease in this group. Future research is needed into the earlier detection and treatment of these diseases, which have a high mortality in our context.
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PMID:HIV-related nephropathy: a South African perspective. 2107 53

Hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by recurrent skin abscesses, recurrent pneumonia with pneumatocele formation, eczema, eosinophilia, and elevated levels of serum IgE. Patients with the autosomal recessive (AR) form of HIES appear to be prone to developing autoimmune diseases. We present two cases of HIES with autoimmune complications; one case was a product of a consanguineous marriage, the other one was a sporadic case. The first patient presented with recurrent episodes of erythema nodosum, warts, bronchiolitis obliterans and thrombocytopenia. The second patient developed glomerulonephritis resulting in endstage renal failure. She later developed malar rash, oral ulcers, cerebral infarcts with vasculitis and positive ANA, anti-dsDNA, and antiphospholipid antibodies. We discuss the dilemma in treating patients who present with both primary immunodeficiency and autoimmunity.
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PMID:Hyper-IgE syndrome and autoimmunity in Mexican children. 1679 2

Human immunodeficiency virus (HIV)-associated nephropathy (HIVAN) is one of the most important causes of progressive kidney failure in HIV-1-seropositive patients. Since the 1980s, much has been published regarding the epidemiology, pathogenesis, and treatment of HIVAN. Our knowledge of the clinical features, pathologic manifestations, course, and potential outcome of HIVAN has increased considerably. The use of highly active antiretroviral therapy has shown significant improvement in the outcome of human immunodeficiency virus infection and is found to be effective in preventing end-stage renal disease. The purpose of this review is to summarize the data about the clinical manifestations, pathogenesis and pathophysiologic mechanisms of HIVAN with particular attention on treatment including pharmaceutical and renal replacement options.
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PMID:HIV-associated nephropathy. 1681 35

Since 1984, human immunodeficiency virus-associated nephropathy has been established as a clinical entity that presents with nephrotic syndrome and progressive kidney failure. The pathological description is usually consistent with a collapsing form of focal segmental glomerulosclerosis. Podocytes and renal tubular cells have been proposed as a reservoir for the human immunodeficiency virus. This nephropathy is the third leading cause of end-stage renal disease in the population of African descent. It is documented that highly active antiretroviral therapy (HAART) successfully reverses or at least controls nephropathy in HIV-positive patients. The success of the treatment of HIV nephropathy now poses 2 problems to nephrologists: (1) an increased population of HIV-positive patients with chronic kidney disease not yet on dialysis and (2) potential nephrotoxicity of antiretroviral medications as well as medications used to treat opportunistic infections. HAART is defined by the combination of 2 reverse transcriptase inhibitors with a protease inhibitor or 3 reverse-transcriptase inhibitors. Many of these antiretrovirals have well-defined nephrotoxic effects. The objective of this text is to review data pertaining to some of the most common antiretrovirals (ARTs) and include information regarding nephrotoxicity of the medications frequently used to combat opportunistic infections. ARTs included in the review are (1) nucleoside reverse-transcriptase inhibitors (zidovudine and didanosine), (2) nucleotide reverse transcriptase inhibitors (adefovir and tenofovir), (3) the protease inhibitors (indinavir and saquinavir), and (4) the HIV fusion inhibitors.
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PMID:Nephrotoxicity as a complication of antiretroviral therapy. 1681 36

Human immunodeficiency virus-associated nephropathy (HIVAN) is a very distinct, unique, clinico-pathological syndrome, and a structural type of renal failure that is the most common cause of chronic renal failure in patients who are HIV-seropositive. Early referral and a long-term, primary care approach can improve patient outcomes. Careful adjustments of prescription doses with regularly scheduled, and at times frequent, laboratory testing will yield, optimal health, improve the quality of life, and most importantly, will decrease the incidence of morbidity and mortality in those individuals afflicted with both HIV and HIVAN.
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PMID:Human immunodeficiency virus-1 associated nephropathy (HIVAN): epidemiology, pathogenesis, histology, diagnosis, and medical management. 1685 98

Phenazopyridine (Pyridium) is a commonly used urinary tract analgesic. It has been associated with yellow skin discoloration, hemolytic anemia, methemoglobinemia, and acute renal failure, especially in patients with preexisting kidney disease. We report a 17-year-old female with vertically transmitted human immunodeficiency virus (HIV) infection, presenting with acute renal failure and methemoglobinemia following a suicidal attempt with a single 1,200 mg ingestion of Pyridium. She had no prior evidence of HIV nephropathy. The patient had a progressive nonoliguric renal failure on the 3rd day following the ingestion. She was treated with N-acetylcysteine, intravenous carnitine, and alkalinization of the urine. Her kidney biopsy revealed acute tubular necrosis with no glomerular changes. After 7 days of conservative management, she was discharged home with normal kidney function. To our knowledge, this is the second smallest amount of Pyridium overdose resulting in acute renal failure with no previous history of kidney disease.
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PMID:Acute renal failure due to phenazopyridine (Pyridium) overdose: case report and review of the literature. 1689 3

Human immunodeficiency virus-associated nephropathy (HIVAN) is characterized by high-grade proteinuria and rapid progression to end-stage renal disease (ESRD). Despite the large numbers of HIV-infected cases in Asian countries, data on HIVAN in this area are limited. We report a 54-year-old Taiwanese man with HIVAN who presented with cytomegalovirus retinitis, renal insufficiency (serum creatinine, 3.8 mg/dL) and nephrotic range proteinuria with a daily protein loss of 10.8 g. Despite highly active antiretroviral therapy (HAART) for 31 months, renal failure developed requiring maintenance hemodialysis. Renal biopsy showed collapsing focal segmental glomerular sclerosis, podocyte proliferation and tubulointerstitial nephritis with mononuclear cell infiltration. These features were compatible with HIVAN. Although hemodialysis was instituted, he died 2 months later due to nosocomial pneumonia complicated with multiple organ failure. In summary, this case of HIVAN in a Taiwanese patient shows that the condition may progress to ESRD despite successful viral suppression with HAART.
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PMID:Human immunodeficiency virus-associated nephropathy. 1693 71

Fungal sinusitis caused by invasive fungal infections, such as Mucormycosis, occurs predominantly in an immunocompromised patient. However, invasive cranial bone mycoses are rare and are usually associated with host immunodeficiency. They are difficult to diagnose, and in many cases are fatal. Treatment consists of antifungal chemotherapy, radical surgical debridement, and control of the underlying immunological condition. We report a case of Mucormycosis in a patient with type 1 diabetes mellitus. The patient had a history of dental pathology and associated renal dysfunction. The patient was managed by extensive surgical debridement followed by amphotericin B lipid complex injection (Abelcet 5 mg/bw kg/day) as an antifungal agent. Our patient's ocular function was affected. The radical treatment and follow-up by a multidisciplinary team eliminated the mucor-related consequences, however, the patient died because of end-stage renal failure. In conclusion, type 1 diabetes may be associated with invasive fungal sinusitis.
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PMID:Mucormycosis mimicks sinusitis in a diabetic adult. 1715 26


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