These descriptions refer to 'classic'<unk> , which usually causes significant disease from young adult or late childhood life. Some individuals, usually with milder mutations or 'carrier' status, develop disease later, or show only some of the features of classic disease. Chronic kidney disease Blood in urine is a usual feature of<unk>  from early infancy, identifiable on urine dipsticks. In young children, episodes of visible (macroscopic) haematuria may occur. Protein begins to appear in urine as the disease progresses. This is now regarded as an indication for treatment with ACE inhibitors. Progressive loss of kidney function (reflected clinically by increases in serum creatinine or decreases in estimated glomerular filtration rate) can occur and may require treatment with renal replacement: dialysis or a kidney transplant. Hearing loss<unk>  can also cause hearing loss although some patients are not affected. Hearing in<unk>  patients is normal at birth. Hearing loss in affected patients develops progressively, usually at the stage when kidney function is normal, but there is substantial proteinuria. However, in some patients, hearing loss is only noted after kidney function has been lost. Characteristically the early changes are reduced ability to hear high-frequency sounds, 'sensory neural deafness'. This becomes more severe and affects lower frequencies too. Hearing loss is not usually complete in<unk> ; good communication is almost always possible with the use of hearing aids. Eye changes Various eye abnormalities are often seen including lenticonus, keratoconus, cataracts and corneal erosion as well as retinal flecks in the macula and mid-periphery. These rarely threaten vision. Lenticonus (cone-shaped lens) can be treated by replacement of the lens, as for cataracts. Mild keratoconus can be managed with hard, scleral, piggy-back or other specialty medical contact lenses; progressive cases may be halted with corneal collagen cross linking; and severe cases may require a corneal transplant. Macular abnormalities such as incomplete foveal hypoplasia or staircase foveopathy are common in<unk> . It may also be associated with retinitis pigmentosa. Leiomyomatosis Diffuse leiomyomatosis of the oesophagus and tracheobronchial tree has been reported in some families with<unk> . Symptoms usually appear in late childhood and include dysphagia, postprandial vomiting, substernal or epigastric pain, recurrent bronchitis, dyspnea, cough, and stridor. Leiomyomatosis is confirmed by computed tomography (CT) scanning or magnetic resonance imaging (MRI). Other abnormalities Aortic dissection has been described very rarely in patients with early-onset disease. Leiomyomas, tumours of smooth muscle affecting the oesophagus and female genital tract, may occur in a rare overlap<unk>  involving the adjacent COL4A5 and COL4A6 genes.
Alport syndrome
Cystic kidney disease
Balkan endemic nephropathy
IgA nephropathy
Uddanam nephropathy
Sickle cell nephropathy
Mesoamerican nephropathy
Malarial nephropathy