Presentation
A rationalisation of the 1350 boxes used throughout the book gives a simpler and clearer presentation of the various categories. [books.google.de]
Obtain thorough guidance on clinical presentation and therapy for a full range of common and rare skin diseases. [books.google.com]
DDD primarily presents in childhood with the nephrotic or nephritic syndrome. [renalfellow.blogspot.com]
Farnesylated prelamin A was indeed present and LMNA -mutated cells presented features of early senescence [ 24 ]. [hal.inserm.fr]
DDD has an estimated prevalence of 2–3/million population [3] and traditionally presents with nephritic-nephrotic syndrome in children or young adults. [4] We describe a rare case of DDD with crescentic glomerulonephritis, presenting as rapidly progressive [ijpmonline.org]
Entire Body System
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Inflammation
Moreover, numerous works have shown that in obesity, but also in cases of lipodystophy, adipose tissue was the site of a local low-grade inflammation that involves immune cells such as macrophages and certain populations of lymphocytes. [books.google.com]
Lipoatrophy is also accompanied by a state of chronic low-level inflammation [ 35 ]. [intechopen.com]
In some cases, this can result in episodes of acute inflammation of the pancreas (pancreatitis). Pancreatitis can be associated with abdominal pain, chills, jaundice, weakness, sweating, vomiting, and weight loss. [rarediseases.org]
However, the C3b: total C3 ratio failed to correlate with indices of glomerular inflammation, probably in part because the ratio is not a measure of total glomerular C3b. [ncbi.nlm.nih.gov]
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Recurrent Infection
[…] serum complement C3 ; Hematuria ; Lipodystrophy ; Loss of subcutaneous adipose tissue from upper limbs ; Membranoproliferative glomerulonephritis ; Nephrotic syndrome ; Phenotypic variability ; Progressive loss of facial adipose tissue ; Proteinuria ; Recurrent [mousephenotype.org]
infections Nevus Peripheral neuropathy Muscle weakness Congestive heart failure Diabetes mellitus Feeding difficulties Hypogonadism Abnormal facial shape Motor delay IgA deficiency Neoplasm Ataxia Scoliosis Hepatomegaly Cirrhosis Tics Skeletal muscle [mendelian.co]
A nephelometric measurement of the four IgG subclasses, deficiencies of which can be associated with recurrent infection, particularly of the respiratory tract. A nephrologist interprets all IgG subclasses. Specimen requirements 1 mL serum, frozen. [cincinnatichildrens.org]
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Fatigue
Affected individuals may also experience fatigue. Individuals with AGL often develop severe insulin resistance, which can result in a variety of metabolic complications. [rarediseases.org]
Ichthyosis Finger syndactyly Protruding ear Erythema Syndactyly Clinodactyly of the 5th finger Malar flattening Intellectual disability, mild Reduced number of teeth Squamous cell carcinoma Cryptorchidism Abnormality of chromosome stability Thrombocytopenia Fatigue [mendelian.co]
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Surgical Procedure
by surgical procedures or stress. They do not respond to therapy by sympatomimetics, antihistamines, or steroids but can be controlled therapeutically by plasma-purified or recombinant C1-INH or by the bradykinin receptor antagonist icatibant. [frontiersin.org]
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Collapse
(b) Ischemic collapse of glomerular tuft with dense deposit disease, transmission electron microscopy ( 2550). [ijpmonline.org]
Musculoskeletal
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Osteoporosis
Updated clinical guidelines for diabetes, lipid disorders, obesity management, osteoporosis, and more, as well as essential treatment updates for the medical management of acromegaly, Cushing's Disease, hypercalcemia, and diabetes mellitus. [books.google.com]
Spontaneous abortion Tachycardia Lower limb muscle weakness Limb muscle weakness Depressivity Alopecia Secondary amenorrhea Hypoplastic frontal sinuses Hirsutism Abnormality of skin pigmentation Abnormality of the foot Hyperlordosis Mandibular prognathia Osteoporosis [mendelian.co]
HIV-infected patients, even well-controlled with an undetectable viral load and a high number of CD4 lymphocytes, encounter the early occurrence of a number of comorbidities classically associated with aging: increased cardio-vascular disease, hypertension, osteoporosis [hal.inserm.fr]
Skin
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Dermatitis
Stay up to date with recent society guidelines, including the latest from the American Academy of Dermatology, covering a variety of conditions such as melanoma and atopic dermatitis. [books.google.com]
[…] nephritic factor (C3NeF). [3, 4, 5] Autoimmune diseases -Systemic lupus erythematosus is the most common of these [3, 4] ; other reported autoimmune diseases include, but are not limited to, the following: Dermatomyositis Pernicious anemia Celiac disease Dermatitis [thehealthscience.com]
Celiac sprue is associated with dermatitis herpetiformis (DH), insulin-dependent diabetes mellitus and IgA immunoglobulin deficiency. [seals.health.nsw.gov.au]
If immune complexes lodge in blood vessel walls in a particular tissue, they may activate complement to produce synovitis, vasculitis, dermatitis, or glomerulonephritis. [what-when-how.com]
Dermatitis Herpetiformis Dermatitis herpetiformis (DH), a celiac disease-related skin disorder, is characterized with itchy blistering skin lesions especially at elbows and knees. [frontiersin.org]
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Eruptions
Ensure that you’re up to speed with the hottest topics in dermatology, including drug eruptions from new medications, new therapeutics for melanoma, as well as viral infections, biologic agents, and newly described gene targets for treatment. [books.google.com]
Hyperlipidemia, insulin-resistant diabetes mellitus, and eruptive xanthomas may be seen. The gene is unknown, but only females are affected. Type 2 (FPLD2-Dunnigan) is caused by mutations in the laminin A/C gene. [easypediatrics.com]
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Skin Rash
Glossoptosis Myositis Rheumatoid arthritis Chronic otitis media Osteomyelitis Encephalitis Conjunctivitis Abnormal lung morphology Meningitis Chronic diarrhea Myelopathy Skin ulcer Hepatitis Otitis media Recurrent pneumonia Malabsorption Autoimmunity Skin [mendelian.co]
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Xanthoma
Hyperlipidemia, insulin-resistant diabetes mellitus, and eruptive xanthomas may be seen. The gene is unknown, but only females are affected. Type 2 (FPLD2-Dunnigan) is caused by mutations in the laminin A/C gene. [easypediatrics.com]
Face, Head & Neck
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Loss of Facial Adipose Tissue
[…] of facial adipose tissue ; Proteinuria ; Recurrent infections ; Sporadic Associated Genes - Mouse Orthologs - Source OMIM:613913 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology [mousephenotype.org]
Neurologic
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Stroke
A new chapter specifically on Stroke Disease recognises the emergence of Stroke Medicine as a distinct clinical and academic discipline. [books.google.de]
First, complement activation contributes to tissue damage in ischemia-reperfusion injury syndromes such as myocardial infarctions and stroke; second, C5b-C9 and C5a bear responsibility for more of the tissue damage during complement activation than predicted [what-when-how.com]
Pericardial effusion Multiple lipomas Aspiration pneumonia Reduced factor XI activity Proximal tubulopathy Hypoplasia of the pons Reduced antithrombin III activity Abnormal cortical gyration Recurrent viral infections Congenital nephrotic syndrome Fair hair Stroke-like [mendelian.co]
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Meningism
PubMed ID: 7708258 Hulton, SA, et al.: Mesangiocapillary glomerulonephritis associated with meningococcal meningitis, C3 nephritic factor and persistently low complement C3 and C5. Pediatr Nephrol. 1992 May; 6(3):239-43. [morl.lab.uiowa.edu]
[…] hair Pulmonary arterial hypertension Reduced tendon reflexes Pointed chin Dementia Recurrent urinary tract infections Glossoptosis Myositis Rheumatoid arthritis Chronic otitis media Osteomyelitis Encephalitis Conjunctivitis Abnormal lung morphology Meningitis [mendelian.co]
HLA-DRB1*01 allele and low plasma immunoglobulin G1 concentration may predispose to herpes-associated recurrent lymphocytic meningitis. [frontiersin.org]
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Forgetful
We cannot forget that along the years, patients have done multiple regimes and combinations of antiretroviral drugs, which makes it difficult to identify different risks with different drugs, and studies therefore report conflicting results [ 6 ]. [intechopen.com]
Urogenital
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Hematuria
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis Synonyms LIPODYSTROPHY, PARTIAL, ACQUIRED, ASSOCIATED WITH C3 NEPHRITIC FACTOR Classification unclassified Phenotypes Decreased serum complement C3 ; Hematuria [mousephenotype.org]
However, it can have a wide range of other clinical presentations, including sterile pyuria, isolated macroscopic hematuria, microscopic hematuria with subnephrotic range proteinuria, and isolated proteinuria. [renalfellow.blogspot.com]
Patients present with hematuria, proteinuria, hematuria plus proteinuria, acute nephritic syndrome, or nephrotic syndrome MPGN in adults is also often limited to the kidney; but in patients with DDD, partial lipodystrophy that preferentially involves [slideshare.net]
The major features of C3G include high levels of protein in the urine (proteinuria), blood in the urine (hematuria), reduced amounts of urine, low levels of protein in the blood, and swelling in many areas of the body. [checkorphan.org]
Workup
A genetic workup should be performed if the familial form of lipodystrophy is suggested. [en.wikipedia.org]
Treatment
Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]
Treatment for C3 glomerulopathy Plasma therapy 41. Treatment for C3 glomerulopathy Plasma therapy 42. Treatment for C3 glomerulopathy Plasma therapy 43. [slideshare.net]
Management and treatment Surgical management of the lipodystrophy is feasible, and is mainly aimed at aesthetic improvement. [orpha.net]
Prognosis
Prognosis - C3 Glomerulopathy Renal prognosis is poor, with a 30% risk of end stage renal disease at 2-years. The risk of recurrence in the transplanted kidney is over 70%, with more than a 50% chance of graft loss. [checkorphan.org]
Prognosis The prognostic is largely unknown but depends on the extent of the nephropathy, which may progress to renal insufficiency. The documents contained in this web site are presented for information purposes only. [orpha.net]
Affected individuals should talk to their physician and medical team about their specific case, associated symptoms, and overall prognosis. [rarediseases.org]
It seems to have a worse prognosis for patients with NS. Some authors have found that persistent hypertension, serum creatinine increase at diagnosis, and macroscopic hematuria episodes are also related to worse prognosis. [kidneypathology.com]
Etiology
The etiology of this condition is has not been fully clear. Lipodystrophy is often associated with glomerulonephritis, low C3 serum complement levels, and the presence of a C3 nephritic factor. [checkrare.com]
Etiology Recently, mutations in the nuclear envelope protein, lamin B2, have been identified in patients with this syndrome. Management and treatment Surgical management of the lipodystrophy is feasible, and is mainly aimed at aesthetic improvement. [orpha.net]
Acquired Generalized Lipodystrophy (Lawrence Syndrome) ETIOLOGY AND PATHOGENESIS The exact etiology and pathogenesis of AGL are unknown. [dermaamin.com]
Table 21-1 Etiology of membranoproliferative glomerulonephritis. [abdominalkey.com]
Epidemiology
Summary Epidemiology More than 250 cases have been described in the literature, with a female-to-male ratio of 3:1. There is usually no family history of lipodystrophy. Clinical description Onset occurs during childhood or adolescence. [orpha.net]
[…] hypocomplementemia likely contributes to the association of this syndrome with autoimmune diseases and with a propensity for patients to acquire bacterial infections. [2] Other proposed mechanisms include an autoimmune process and genetic associations. [8, 9] Epidemiology [thehealthscience.com]
EPIDEMIOLOGY. Sjögren syndrome typically presents at 35–45 yr of age, with 90% of cases among women. It is uncommon in the pediatric age group. [easypediatrics.com]
ACQUIRED LIPODYSTROPHIES Epidemiology The acquired lipodystrophies are more common than the inherited forms but are still quite rare. [dermaamin.com]
Pathophysiology
Other adipokines have now been described and these molecules are taking on increasing importance in physiology and pathophysiology. [books.google.com]
The precise pathophysiology of fat loss is unclear. [thehealthscience.com]
The pathophysiological mechanisms involve alterations of the transcriptional activity of PPARγ, which is important for adipose tissue differentiation, but also plays a role in other tissues. [hal.inserm.fr]
Prevention
[…] complement -mediated lysis of sheep erythrocytes in sera from C3G patients, prevents complement dysregulation in the presence of patient-derived autoantibodies to the C3 and C5 convertases, and prevents complement dysregulation associated with disease [slideshare.net]
Prevention of primary manifestations: In individuals with pathogenic mutations in CFH, plasma replacement therapy can control complement activation and prevent ESRD. Surveillance: Periodic eye examinations including funduscopic examination. [es.slideshare.net]
It may also prevent the action of decay accelerators, including CFH. [path.upmc.edu]
Prevention - C3 Glomerulopathy Not supplied. Diagnosis - C3 Glomerulopathy C3G can only be diagnosed by a kidney biopsy. [checkorphan.org]