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]

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]

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 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]

Some families with Alport syndrome have severe nephropathy but normal hearing. Hearing loss is never present at birth. [emedicine.medscape.com]

In some families with Alport syndrome and hearing loss, affected members may have apparently normal hearing even after ESRD, but as a rule those family members without hearing loss have less severe renal disease. [web.archive.org]

Certain patients, however, are at very low risk for developing posttransplant anti-GBM nephritis, including those with normal hearing, patients with late progression to ESRD, and females with XLAS. [emedicine.com]

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]

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]

All 48 patients had hematuria. For 30, there was hematuria in at least one other member of the family (familial hematuria group); for 18, there was no familial incidence. [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]

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]

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]

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]

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]