Presentation
Renal biopsy of the presented case indicated chronic interstitial nephritis without glomerular basement membrane abnormalities. [ncbi.nlm.nih.gov]
E pub Jan 12 Related Report Peer Reviewed [Presentation] 家族性IgA腎症の遺伝解析 2010 Author(s) 後藤眞, 和田真一, 塚口裕康, 福田陽子, 坂爪実, 辻省次, 成田一衛 Organizer 第53回日本腎臓学会学術集会・総会 Place of Presentation 神戸国際会議場 Year and Date 2010-06-18 Related Report [kaken.nii.ac.jp]
Here, six Irish kindreds with familial interstitial nephritis (FIN) are presented. The largest kindred have FIN which is inherited in a dominant fashion and does not associate with the UMOD locus. [epubs.rcsi.ie]
This reference guide will be the must-have of any internist or medical professional, as it takes a vast quantity of data across a sweeping grid of disorders, diseases, and presentations, and boils them down to individual parts, facilely indexed, and located [books.google.com]
In contrast the ADTKD-spectrum disorders follow an autosomal-dominant mode of inheritance and are present in every generation of a given pedigree. [renalandurologynews.com]
Entire Body System
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Pathologist
Kradin is also an Associate Pathologist at Massachusetts General Hospital in the Immunopathology Unit. His techniques include tissue culture and immunocytochemistry, flow cytometry, Northern blotting and immunocytochemistry. Dr. [books.google.com]
[…] to urate reabsorption, similar to the mechanism for acquired hyperuricemia in patients receiving loop diuretics.[ 8, 33 ] Differential Diagnosis If there is no known family history of renal disease or gout and the tubular inclusions are missed by the pathologist [uscapknowledgehub.org]
However, if renal biopsy has been obtained, it is prudent to review and discuss the findings with a renal pathologist. [sjkdt.org]
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Chronic Fatigue Syndrome
Kradin has a number of clinical interests including Chronic Fatigue Syndrome, Interstitial Lung Disease, Multiple Chemical Sensitivity and Pulmonary Immunology. He also holds an Associate Professor position of Pathology at Harvard Medical School. [books.google.com]
Respiratoric
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Stridor
Symptoms usually appear in adolescence and include dyspnoea, cough, stridor, recurrent bronchitis, dysphagia, vomiting and epigastric pain. The diagnosis is made by CT or MRI scanning. [patient.info]
Eyes
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Visual Impairment
Lack of proteinuria, hematuria, hypertension, hyperuricemia, hearing loss, and visual impairment were present before the deterioration of the renal function. [ncbi.nlm.nih.gov]
Skin
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Petechiae
[…] the cardiovascular system for irregular cardiac rhythm, heart murmur or hypertension; evaluation of the abdomen for organomegaly or flank mass; evaluation of the prostate and external genitalia; and evaluation of the extremities for peripheral edema, petechiae [aafp.org]
Psychiatrical
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Suggestibility
Progressive decline of renal function and the inheritance pattern of autosomal dominance in this family suggested the diagnosis of familial interstitial nephritis. [ncbi.nlm.nih.gov]
An x-linked trait, with variable penetrance is suggested to cause the interstitial nephritis in this family. [link.springer.com]
Anecdotal reports suggest that ACE inhibitors or angiotensin II receptor blockers may slow progression of renal disease. [merckmanuals.com]
These cells suggest a glomerular cause of microscopic hematuria. (phase contrast microscopy, 100) FIGURE 2. Dysmorphic erythrocytes from a urine specimen. These cells suggest a glomerular cause of microscopic hematuria. [aafp.org]
Workup
Genetic analysis is highly indicated in order to identify causative mutations, assist with further syndromatic workup and help with prognosis. [renalandurologynews.com]
HNF1b, whose mutation is responsible for another hyperuricaemic disease that should be suspected in cases with a compatible clinical presentation and if the studies cited above are negative. 7,31,32 The primary indications for genetic diagnosis are workup [revistanefrologia.com]
X-Ray
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Small Kidney
kidneys with multiple small ( Promoted articles (advertising) [radiopaedia.org]
In summary, the diagnosis of nephronophthisis should be entertained when an individual presents in the first three decades of life with reduced kidney function, a bland urine sediment, normal to small kidneys on ultrasound with increased echogenicity [renalandurologynews.com]
Treatment
Take advantage of expanded coverage of small molecule treatment, biologics, biomarkers, epigenetics, biosimilars, and cell-based therapies. [books.google.com]
Women with Alport Syndrome have better prognosis than men Please find comprehensive information on Alport Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, [dovemed.com]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
An update for atypical haemolytic uraemic syndrome: Diagnosis and treatment. A consensus document. Nefrologia 2015;35:421-47. 58. Zuber J, Fakhouri F, Roumenina LT, et al. [sjkdt.org]
Prognosis
Women with Alport Syndrome have better prognosis than men Please find comprehensive information on Alport Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, [dovemed.com]
ESKD: occurs at an average age of 16-37 years. [ 7 ] Prognosis Prognosis depends on the type of inheritance, the sex of the patient and the type of mutations in type IV collagen genes. [patient.info]
Renal vascular lesions as a marker of poor prognosis in patients with lupus nephritis. Gruppo italiano per lo studio della nefrite lupica (GISNEL). Am J Kidney Dis 1991;18:240-8. 49. Jain R, Chartash E, Susin M, Furie R. [sjkdt.org]
There is no clear evidence that corticosteroids help. [6] Nutrition therapy consists of adequate fluid intake, which can require several liters of extra fluid. [21] Prognosis [ edit ] The kidneys are the only body system that are directly affected by [en.wikipedia.org]
Genetic analysis is highly indicated in order to identify causative mutations, assist with further syndromatic workup and help with prognosis. [renalandurologynews.com]
Etiology
Its etiology is variable, and may be medicinal, infectious or inflammatory origin. CASE REPORT: This is a 65-year-old male patient with renal lesions of unknown etiology, associated with hypercalcaemia. [bjn.org.br]
TERMINOLOGY Abbreviations Karyomegalic interstitial nephritis (KIN) Synonyms Systemic karyomegaly Definitions Chronic tubulointerstitial nephritis with prominent karyomegaly in tubular epithelium Initially reported by Mihatsch and colleagues in 1979 ETIOLOGY [basicmedicalkey.com]
Possible health impacts of naturally occurring uptake of aristolochic acids by maize and cucumber roots: links to the etiology of endemic (Balkan) nephropathy. [ncbi.nlm.nih.gov]
Etiology Two genes have been linked to the disease: MCKD1 (1q21) is associated with end-stage renal disease at the mean age of 62 years, and MCKD2 (in 16p12, where the gene UMOD, encoding uromodulin or Tamm-Horsfall protein, has been identified as responsible [orpha.net]
Higher incidence (5–20%) in individuals with eating disorders 10% of inpatients with alcoholism Higher incidence in patients with AIDS Higher incidence in patients receiving diuretics 12–18% in patients with CKD Associated risk after bariatric surgery Etiology [unboundmedicine.com]
Epidemiology
[…] association with HLA (B27/35) Environmental Toxins Suspected in some cases Ochratoxin has been implicated in cases in Tunisia Animal Models Various toxins in rats Ochratoxin Cisplatin Glutathione depletion (1-cyano-3,4-epithiobutane) CLINICAL ISSUES Epidemiology [basicmedicalkey.com]
Summary Epidemiology Less than 60 families affected by ADMCKD have been described. Prevalence is estimated to be 1/100 000. Clinical description Clinical onset and course are insidious. [orpha.net]
[…] this topic is shown below -- Basics Description Hypokalemia is defined as a serum potassium concentration Mild hypokalemia (serum potassium 3.0 to 3.5 mEq/L) Moderate hypokalemia (serum potassium 2.5 to 3.0 mEq/L) Severe hypokalemia (serum potassium Epidemiology [unboundmedicine.com]
Epidemiology of end-stage renal disease and current status of hemodialysis in Yugoslavia. Int J Artif Organs. 2002; 25 :852–859. [ PubMed ] [ Google Scholar ] 12. Stefanovic V, Cukuranovic R, Miljkovic S, et al. [ncbi.nlm.nih.gov]
Epidemiology [ edit ] Interstitial nephritis is uncommon ( acute kidney injury of unknown cause. [2] While it can occur in patients of all ages, it is more common in elderly patients, perhaps due to increased exposure to drugs and other triggering causes [en.wikipedia.org]
Pathophysiology
[…] incidence (5–20%) in individuals with eating disorders 10% of inpatients with alcoholism Higher incidence in patients with AIDS Higher incidence in patients receiving diuretics 12–18% in patients with CKD Associated risk after bariatric surgery Etiology and Pathophysiology [unboundmedicine.com]
The nutcracker syndrome: new aspects of pathophysiology, diagnosis and treatment. J Urol. 1991;146:685–8. 16. Messing EM, Catalona W. Urothelial tumors of the urinary tract. In: Walsh PC, ed. Campbell's Urology. 7th ed. [aafp.org]
Prevention
The condition cannot also be effectively prevented Males are more commonly affected by Alport Syndrome than females; also, females have a milder condition than males. [dovemed.com]
Familial hypokalemic periodic paralysis: hypokalemia after a high-carbohydrate or high-sodium meal or after exercise Congenital adrenogenital syndromes Liddle syndrome: increases K secretion Familial interstitial nephritis General Prevention When initiating [unboundmedicine.com]
It has been suggested that one of THP major role is of an urinary anti-adherence factor preventing type 1 fimbriated E coli from binding to the urothelial receptors [ 13 ]. [bmcmedgenet.biomedcentral.com]
With early diagnosis and treatment, clinical manifestations of gout can be prevented or delayed; however, there is only anecdotal evidence that allopurinol may slow the rate of progression to ESRD[ 41 ]. References [uscapknowledgehub.org]
Diet and lifestyle changes may help prevent gouty attacks: Decrease alcohol. Lose weight. Exercise daily. Limit your intake of red meat and sugary beverages. [wakehealth.edu]