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Alport Syndrome

Hereditary Nephritis


Presentation

  • If a male patient does not present with hematuria during the first decade of life, he is unlikely to have Alport syndrome.[emedicine.medscape.com]
  • A number of patients present to nephrologists with end-stage renal failure of unknown cause and many have small kidneys, making renal biopsy inadvisable.[ncbi.nlm.nih.gov]
  • Clinical description Ocular abnormalities are present in 1/3 of the cases (anterior lenticonus, corneal lesions). Sensorineural deafness is linked to cochlear involvement.[orpha.net]
Prolonged Bleeding
  • The girl, the father and the uncle presented macrothrombocytopenia (40-100 X 10(9)/l, size 4-8 mum) with prolonged bleeding time (which precluded renal biopsy) and cytoplasmic inclusions in neutrophils (Döhle bodies).[ncbi.nlm.nih.gov]
Family History of Deafness
  • Two patients with recurrent haematuria but no family history of deafness or haematuria showed similar extensive changes and are regarded as new mutant cases of hereditary nephritis.[ncbi.nlm.nih.gov]
Hypertension
  • Complications Nephritic syndrome: oedema, hypertension, uraemia and oliguria. Nephrotic syndrome : oedema, hypoalbuminaemia, hyperlipidaemia.[patient.info]
  • Thus, the use of ACE inhibitors is reasonable in patients with Alport syndrome who have proteinuria with or without hypertension; the same is true for angiotensin-receptor blockers (ARBs).[emedicine.medscape.com]
  • Abstract A 14-year-old boy with persistent proteinuria (1.6-4.0 g/day), microscopic haematuria, moderate hypertension, macrothrombocytopenia (giant platelets, platelet number 30 x 10(9)/l) and a familial sensorineural hearing loss (the father and the[ncbi.nlm.nih.gov]
Blurred Vision
  • Corneal erosion in which there is loss of the outer layer of the covering of the eyeball, leading to pain, itching, or redness of the eye, or blurred vision. Abnormal coloring of the retina, a condition called dot-and-fleck retinopathy.[nlm.nih.gov]
  • Recurrent corneal erosions can cause discomfort or severe eye pain, an abnormal sensitivity to light (photophobia), blurred vision, and the sensation of a foreign body (such as dirt or an eyelash) in the eye.[rarediseases.org]
Hearing Impairment
  • Hearing impairment is always associated with renal involvement. About 50% of male patients with X-linked Alport syndrome show sensorineural deafness by age 25 years, and about 90% are deaf by age 40 years.[emedicine.medscape.com]
  • A family history of end-stage renal disease with hearing impairment is suggestive of Alport syndrome, but other conditions can cause this combination of abnormalities. Most can be distinguished by clinical features.[en.wikipedia.org]
  • At the initial stages of development the following is observed: decreased vision; hearing impairment (in some cases down to deafness in one ear) blood in the urine.[brulanta.com]
  • Clinically distinguish two options: 1) hereditary nephritis with hearing loss (Alport syndrome); 2) hereditary nephritis without hearing impairment.[en.medicine-guidebook.com]
  • Smith RJHSteel KPBarkway CSoucek SMichaels L A histologic study of nonmorphogenetic forms of hereditary hearing impairment. Arch Otolaryngol Head Neck Surg 1992;1181085- 1094 PubMed Google Scholar Crossref 16.[archotol.ama-assn.org]
Hearing Problem
  • Hearing problems, usually an inability to hear sounds in the higher frequencies, are common. Cataracts can also occur, although less often than hearing loss. Abnormalities of the corneas, lenses, or retina sometimes cause blindness.[msdmanuals.com]
Impulsivity
  • Type IV collagen is also an important component of inner ear structures, particularly the organ of Corti, that transform sound waves into nerve impulses for the brain.[ghr.nlm.nih.gov]
Hematuria
  • The proband had experienced microscopic hematuria and occasionally macroscopic hematuria since 3 years of age.[ncbi.nlm.nih.gov]
  • Renal manifestations Hematuria Gross or microscopic hematuria is the most common and earliest manifestation of Alport syndrome. Microscopic hematuria is observed in all males and in 95% of females.[emedicine.medscape.com]
  • Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy. Curr Opin Pediatr. 2004 Apr;16(2):177-81. Review. Kashtan CE. Familial hematurias: what we know and what we don't.[ghr.nlm.nih.gov]
  • AFFECTED INDIVIDUALS Chronic hematuria (blood in the urine) is the cardinal sign of Alport syndrome. Persons with hematuria and a gene for Alport syndrome are affected.[web.archive.org]
Renal Insufficiency
  • Monitoring Check 24-hour urinary protein, creatinine, and serum chemistry as follows: Annually in patients without renal insufficiency and in those with mild renal insufficiency Every 6 months in patients with moderate renal insufficiency Every 1-3 months[emedicine.medscape.com]
  • Abstract Hereditary nephritis with deafness, or Alport's syndrome, is a familial disorder characterized by progressive renal insufficiency, sensorineural hearing loss and ocular abnormalities.[ncbi.nlm.nih.gov]
  • Cases with X-linked inheritance may be clinically categorized as Juvenile form: Renal insufficiency develops between 20 and 30 yr Adult form: Renal insufficiency develops in people 30 yr Symptoms and Signs Classic X-linked disease in males and autosomal[merckmanuals.com]
Macroscopic Hematuria
  • The proband had experienced microscopic hematuria and occasionally macroscopic hematuria since 3 years of age.[ncbi.nlm.nih.gov]
  • Macroscopic hematuria is not common in adults and perhaps a feature of juvenile types of disease. Red cell excretion rate is increased by acute infections and by pregnancy.[web.archive.org]

Workup

  • Laboratory workup including haematology, chemistry, immunology and clotting tests was normal with the exception of haematuria.[ncbi.nlm.nih.gov]
  • Serologic workup was negative for anti-nuclear antibody, hepatitis B surface antigen, hepatitis C antibody and HIV Based on the family history, the pattern of inheritance was consistent with autosomal dominant.[omicsonline.org]
Small Kidney
  • A number of patients present to nephrologists with end-stage renal failure of unknown cause and many have small kidneys, making renal biopsy inadvisable.[ncbi.nlm.nih.gov]
  • Small kidneys with exceptionally hypertrophied nephrons. A defect in nephrogenesis that produces abnormal cells and tissues. These kidneys contain islands of undifferentiated mesenchyme, primitive glomeruli and tubules and sometimes cartilage.[quizlet.com]
Bilateral Small Kidneys
  • Ultrasound examination revealed bilateral small kidneys. He was severely hypertensive; audiometry and ophthalmic examinations were normal. Thrombocytopenia with giant platelets was observed in peripheral blood smears.[ncbi.nlm.nih.gov]
Bilateral Small Kidneys
  • Ultrasound examination revealed bilateral small kidneys. He was severely hypertensive; audiometry and ophthalmic examinations were normal. Thrombocytopenia with giant platelets was observed in peripheral blood smears.[ncbi.nlm.nih.gov]

Treatment

  • There is no currently known beneficial treatment for these disorders.[ncbi.nlm.nih.gov]
  • Possibly in the future genetic tests may be able to predict risk and likely response to treatment. We aren’t there yet. Can it be cured? Although it cannot be cured, there is useful treatment.[edren.org]
  • 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]
  • Gingival biopsy: changes in gingival tissues have been reported as a consequence of AS and may prove to be be an alternative initial diagnostic tool. [ 8 ] Management There is no definitive treatment for AS.[patient.info]

Prognosis

  • Renal involvement, a common cause of death amongst afflicted subjects, appears to have a better prognosis in the affected members of this family.[ncbi.nlm.nih.gov]
  • 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]

Etiology

  • Etiology The etiology of hereditary nephrite is still impossible to fully establish. The most likely reason is considered to be a mutation of the gene, which is responsible for the synthesis of proteins in the kidney tissue.[brulanta.com]
  • It is suggestd that there is a common rather than a divers etiology for ranal disease in children. Longgitudinal follow-up with repeated renal functionl studies and biopsies will be needed to delineate the natural history.[nature.com]
  • With the development of human genetics, including medical genetics, the hereditary nature of many diseases and syndromes, previously considered illnesses with unknown etiology, became clear.[en.medicine-guidebook.com]
  • Once microhematuria is provisionally localized to the glomeruli, possible etiologies include a number of chronic glomerulopathies.[ncbi.nlm.nih.gov]

Epidemiology

  • Summary Epidemiology Prevalence is estimated at 1/50 000. Clinical description Ocular abnormalities are present in 1/3 of the cases (anterior lenticonus, corneal lesions). Sensorineural deafness is linked to cochlear involvement.[orpha.net]
  • However, eventually there is the onset of proteinuria associated with the classic and progressive irregular thickening, thinning and splitting of the GBM, which culminates in end-stage kidney disease (ESKD). [ 2 ] Epidemiology Alport's syndrome (AS) is[patient.info]
  • Original Articles Epidemiology and Outcomes, Anneke Kramer, Kitty J. Jager, Katharina Lange, Frederick Peters, Gerhard-Anton Müller, Reinhard Kramar, James G. Heaf, Patrik Finne, Runolfur Palsson, Anna V. Reisæter, Andries J.[doi.org]
Sex distribution
Age distribution

Pathophysiology

  • From basic science and pathophysiology to clinical best practices, Brenner & Rector’s The Kidney is your go-to resource for any stage of your career.[books.google.com]
  • The pathophysiologic mechanisms of SNHL in Alport syndrome remain unknown.[archotol.ama-assn.org]

Prevention

  • Can it be prevented? There is a lot of research going on into how to make the body tolerant of ‘slightly different’ molecules like the Alport molecule.[edren.org]
  • Prevention There is no prophylaxis of hereditary nephritis. This genetic disease can not be prevented.[brulanta.com]
  • When mutations prevent the formation of 345 type IV collagen network in the glomerulus, the 112 network, which is formed in fetal development but usually replaced by 345, persists into adult life.[en.wikipedia.org]
  • Fosinopril Fosinopril is an angiotensin converting enzyme (ACE) inhibitor, prescribed for high blood pressure, heart failure and preventing kidney failure.[medindia.net]
  • Prevention Streptococcal infections that may lead to glomerulonephritis can be prevented by avoiding exposure to strep infection and obtaining prompt medical treatment for scarlet fever or other infection.[medical-dictionary.thefreedictionary.com]

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