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Benign Familial Hematuria

Hematuria Benign Recurrent


Presentation

  • We present here linkage of benign familial hematuria with the COL4A3 and COL4A4 genes at 2q35-37 (Zmax 3.58 at theta 0.0). Subsequently, a glycine to glutamic acid substitution was identified in the collagenous region of the COL4A4 gene.[ncbi.nlm.nih.gov]
  • Leading experts from Latin America, Africa, Near and Middle East, Indian Subcontinent, Far East, Oceania and Australia present their expert insights into specific conditions, as well as progress and challenges in the development of the specialty.[books.google.com]
  • One of the missense mutations (p.G624D) was present not only in one family with ATS but also in five families with suspected BFH.[ncbi.nlm.nih.gov]
  • Proteinuria, progression to renal failure, or extrarenal symptoms such as hearing loss are not present. Physical examination is normal, and no abnormalities are noted with audiometric and ophthalmologic examinations.[musculoskeletalkey.com]
  • Uses the same consistent, step-by-step presentation in every chapter: History, Physical Examination, Diagnosis (including laboratory tests), Imaging, Diagnosis, and Treatment.[books.google.com]
Splenomegaly
  • Inclusion: Benign neoplasm of lip (frenulum) (inner aspect) (mucosa) (vermilion border) excludes: benign neoplasm of skin of lip (D22.0, D23.0) D70 Neutropenia Included: agranulocytosis decreased absolute neurophile count (ANC) excludes: neutropenic splenomegaly[codelay.com]
Ulcer
  • […] epilepticus H35.0 Background retinopathy and retinal vascular changes I99.9 Unspecified disorder of circulatory system K83.8 Other specified diseases of biliary tract Inclusion: Adhesions of biliary tract Atrophy of biliary tract Hypertrophy of biliary tract Ulcer[codelay.com]
Microscopic Hematuria
  • It is frequent in patients with persistent microscopic hematuria, but cannot be clinically differentiated from the initial stages of Alport syndrome, a severe GBM disorder which progresses to renal failure.[ncbi.nlm.nih.gov]
  • Abstract Patients with microscopic hematuria are generally referred for urologic investigation.[ncbi.nlm.nih.gov]
  • Benign familial hematuria is an autosomal dominant condition manifest as nonprogressive isolated microscopic hematuria that does not result in renal failure.[ncbi.nlm.nih.gov]
  • This familial condition is characterized by persistent microscopic hematuria with episodic gross hematuria and a favorable long-term prognosis. Although the pathogenesis is unclear, an immune process does not appear to be involved.[pediatrics.aappublications.org]
  • Get Update Overview Benign familial hematuria is an autosomal dominant condition manifest as nonprogressive isolated microscopic hematuria that does not result in renal failure.[diseaseinfosearch.org]

Workup

  • What does the workup involve? The workup may involve a combination of radiology studies and/or bloodworm. Radiology studies may include: ultrasound of kidneys and bladder or spiral CAT scan if suspicion of stone.[urologyforchildren.com]
  • For instance, if exam, urine cultural, renal function, and blood count were normal, and the microscopic hematuria disappeared while the aviator refrained from exercise, no further workup would be required. IV. Waiver Considerations.[flyingsquadron.com]
  • Patients with hematuria may be categorized into: Gross hematuria Microscopic hematuria with clinical symptoms Asymptomatic microscopic hematuria with proteinuria Asymptomatic microscopic (isolated) hematuria See Workup for more detail.[emedicine.medscape.com]
Pericardial Effusion

Treatment

  • Here, the practicing urologist will find informative, easy-to-read reviews of the modern evaluation of prenatal hydronephrosis, the standard treatment of reflux vs the newer injectable techniques, and the spectrum of hypospadias treatment along with new[books.google.com]
  • Get clear, concise descriptions and evidence-based treatment guidelines for a full range of clinical conditions, ranging from the common to the unusual.[books.google.com]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • Uses the same consistent, step-by-step presentation in every chapter: History, Physical Examination, Diagnosis (including laboratory tests), Imaging, Diagnosis, and Treatment.[books.google.com]
  • Thin basement membrane disease may co-exist with other kidney diseases, which may in part be explained by the high prevalence of thin basement membrane disease.[ Treatment - Benign familial hematuria Most patients with thin basement membrane disease need[checkorphan.org]

Prognosis

  • Prognosis - Benign familial hematuria Overall, most people with thin basement membrane disease have an excellent prognosis. Some reports, however, suggest that a minority might develop hypertension.[checkorphan.org]
  • The term benign implies benign clinical course with good prognosis, and the term familial implies occurrence of hematuria in other family members. BHF is a very common finding, occurring in more than 1% of the population.[musculoskeletalkey.com]
  • This familial condition is characterized by persistent microscopic hematuria with episodic gross hematuria and a favorable long-term prognosis. Although the pathogenesis is unclear, an immune process does not appear to be involved.[pediatrics.aappublications.org]
  • Prognosis [ edit ] Overall, most people with thin basement membrane disease have an excellent prognosis .[en.wikipedia.org]
  • Prognosis of IgA Nephropathy Very good. restricted kidney function may occur Kidney failure unlikely Congenital Nephrotic Syndrome Onset of nephrotic syndrome within the first 3 months of life. Autosomal recessive inheritance mode.[quizlet.com]

Etiology

  • Microscopic examination of the urine of family members in hematuria without an obvious etiology is warranted. Received January 24, 1969. Accepted April 17, 1969.[pediatrics.aappublications.org]
  • In 6 major studies of microscopic hematuria, between 1% and 12.5% had a neoplastic etiology and between 3.5% and 16.5% had calculi as the etiology (Fracchia et al).[flyingsquadron.com]
  • The more commonly encountered upper and lower urinary tract etiologies are listed in Table 3.[auanet.org]
  • The objective of the study is to assess the etiology and prognosis of gross hematuria ( GH) in patients with carcinoma of the prostate ( CAP). The goal of this activity is to identify how to diagnose and treat prostatic hematuria.[uwufybukaji.tk]
  • Description Gross (visible) or microscopic (nonvisible) blood in the urine, either symptomatic or asymptomatic Epidemiology Prevalence Children: gross: 0.13%; asymptomatic microscopic hematuria (AMH): 0.4–4.1% Adults: AMH: 0.9–17%, depending on population Etiology[unboundmedicine.com]

Epidemiology

  • Nephrotoxins 1275 Urinary Tract Infections 1299 Vesicoureteral Reflux and Renal Scarring 1311 Obstructive Uropathy 1337 Bladder Dysfunction in Children 1379 Urolithiasis 1405 Pediatric Renal Tumors 1431 Epidemiology of Hypertension 1459 Pathophysiology[books.google.com]
  • Microscopic hematuria in school children: epidemiology and clinicpathological evaluation . J Pediatr. 1979 ;95: 676 - 684 . Google Scholar Crossref Medline ISI 4. Lang S , Stevenson B , Risdon RA .[doi.org]
  • Explore these free sample topics: -- The first section of this topic is shown below -- Basics Description Gross (visible) or microscopic (nonvisible) blood in the urine, either symptomatic or asymptomatic Epidemiology Prevalence Children: gross: 0.13%[unboundmedicine.com]
  • Epidemiology The prevalence of microscopic hematuria ranges from 1-20% depending on the population studied. The likelihood of finding significant urologic disease in these patients also varies with associated risk factors which include: Table 1.[auanet.org]
Sex distribution
Age distribution

Pathophysiology

  • Nephrotoxins 1275 Urinary Tract Infections 1299 Vesicoureteral Reflux and Renal Scarring 1311 Obstructive Uropathy 1337 Bladder Dysfunction in Children 1379 Urolithiasis 1405 Pediatric Renal Tumors 1431 Epidemiology of Hypertension 1459 Pathophysiology[books.google.com]
  • More than 2,000 disease genes have been identified in the last 20 years, providing important new insight into the pathophysiology of diseases in every field of medicine.[books.google.com]
  • Brenner/Rector remains the go-to resource for practicing and training nephrologists and internists who wish to master basic science, pathophysiology, and clinical best practices.[books.google.com]
  • […] visible) or microscopic (nonvisible) blood in the urine, either symptomatic or asymptomatic Epidemiology Prevalence Children: gross: 0.13%; asymptomatic microscopic hematuria (AMH): 0.4–4.1% Adults: AMH: 0.9–17%, depending on population Etiology and Pathophysiology[unboundmedicine.com]

Prevention

  • Prevention - Benign familial hematuria Not supplied. Diagnosis - Benign familial hematuria Thin basement membrane disease must be differentiated from the other two common causes of glomerular hematuria, IgA nephropathy and Alport syndrome.[checkorphan.org]
  • However they also have a normal copy of the same gene, which is usually enough to prevent serious trouble (cells contain two copies of all genes, except for those genes carried on the X chromosome.[edren.org]
  • The filters in the kidney prevent blood from entering the urine.[kidney.org]

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