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]

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]

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]

• Swelling

  Symptoms include: Abnormal urine color Ankle, feet, and leg swelling Blood in the urine Cough Decrease or loss of vision, more common in males Loss of hearing, more common in males Swelling around the eyes Swelling, overall The condition can progress [lutheranhealthcare.org]

  In rare cases, women have high blood pressure, swelling, and nerve deafness as a complication of pregnancy. In men, deafness, vision problems, and end-stage kidney disease are likely by age 50. [nlm.nih.gov]

  […] may be acute or chronic (coming on gradually), and may occur on its own (primary) or be caused by another condition (secondary). [1] Signs and symptoms may depend on the type and cause of the condition and may include blood in the urine; foamy urine; swelling [rarediseases.info.nih.gov]

  Two brothers of 18 & 23 years were admitted with complaints of decreased urine output, swelling of both legs of one month duration. [keralamedicaljournal.com]

  Calcium supplements may be recommended, and you may need to take diuretics to reduce swelling. Check with your general practitioner or kidney specialist for guidelines about diet restrictions or supplements. [healthline.com]

• Inflammation

  Gk, nephros + itis, inflammation nephritis Nephrology Inflammation of the kidney. [medical-dictionary.thefreedictionary.com]

  The appearance of segmental glomerular lesions signaled the initiation of a rapidly progressive obliteration of glomeruli, which, in turn, led to interstitial changes (inflammation, fibrosis) terminating in a contracted kidney. [moh-it.pure.elsevier.com]

  Glomerulonephritis is a type of kidney disease in which there is inflammation of the glomeruli, the tiny filters that remove excess waste and fluids from the blood. [1] [2] It may be acute or chronic (coming on gradually), and may occur on its own (primary [rarediseases.info.nih.gov]

  Glomerulonephritis (GN) is inflammation of the glomeruli, which are structures in your kidneys that are made up of tiny blood vessels. These knots of vessels help filter your blood and remove excess fluids. [healthline.com]

  Alport syndrome is an inherited form of kidney inflammation (nephritis). It is caused by a defect (mutation) in a gene for a protein in the connective tissue, called collagen. The disorder is rare. [nlm.nih.gov]

• Fever

  An attack may produce no symptoms, but more often there are headaches, a rundown feeling, back pain, and perhaps slight fever. The urine may look smoky, bloody, or wine-colored. [medical-dictionary.thefreedictionary.com]

  No fever, abdominal pain, dysouria or other symptoms were referred. The patient was the first child of phenotypically healthy parents, born with caesarian section. [ncbi.nlm.nih.gov]

  Clinical: Children (avg. age 10) may experience episodic pain in hands and feet; recurrent fever; hyperhidrosis; heat and cold intolerance. Angiokeratoma skin tumors. Dx is usually delayed until avg. age 30. [quizlet.com]

  Sakakibara N, Nakanishi K, Horinouchi T, Iwafuchi Y, Kusuhara S, Matsumiya W, Yoshikawa N, Iijima K CEN case reports 8(1) 14-17 Aug 2018 [Refereed] Early risk factors for mortality in children with seizure and/or impaired consciousness accompanied by fever [researchmap.jp]

• Pathologist

  Read Summary - More: Guidance Tissue pathways for non-neoplastic neuropathology specimens Source: Royal College of Pathologists - RCPATH - 01 January 2018 - Publisher: Royal College of Pathologists This document gives the Royal College of Pathologists [evidence.nhs.uk]

  The pathologist needs to carefully look for any subtle changes in lamination and change in thickness in other areas as it makes it almost impossible in that stage to differentiate from pure Thin Basement Membrane disease. [nephronpower.com]

  Machaon Diagnostics is a multi-state licensed, CLIA-accredited, College of American Pathologists (CAP)-accredited clinical laboratory authorized to provide high complexity clinical laboratory services. [machaondiagnostics.com]

• 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]

• Abdominal Pain

  pain; high blood pressure ; fatigue; and/or other symptoms. [1] [2] If the condition is severe or prolonged, the kidneys can become damaged. [1] It may be caused by a variety of infections and diseases, and sometimes the cause is unknown. [rarediseases.info.nih.gov]

  No fever, abdominal pain, dysouria or other symptoms were referred. The patient was the first child of phenotypically healthy parents, born with caesarian section. [ncbi.nlm.nih.gov]

  Some symptoms include: blood or excess protein in your urine, which may be microscopic and show up in urine tests high blood pressure swelling in your ankles and face frequent nighttime urination bubbly or foamy urine, from excess protein abdominal pain [healthline.com]

• 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]

  Most common patient will have: Lower extremity edema due to the hypoalbuminemia Hematuria Hypertension Hearing Loss Visual problems Differential Diagnosis Hematuria Urologic (lower tract) Any location Iatrogenic/postprocedure GU trauma Infection Kidney [wikem.org]

• Hypotension

  […] values often readily available in the electronic health record (EHR), we are not only able to identify and stage AKI, but can also utilize additional information in the EHR to understand confounding factors like comorbidities, medication administration, hypotension [ndt.oxfordjournals.org]

  Stages of the disease: 1) compensation stage: arterial hypotension, absence or minimal changes in urine tests; 2) subcompensation stage: symptoms of intoxication, sometimes hypertension, hematuria, moderate changes in protein and lipid metabolism, partial [en.medicine-guidebook.com]

• Blurred Vision

  A macular hole causes blurred or distorted central vision. The goals of treatment include monitoring and controlling the disease and treating the symptoms. [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]

• Retinal Lesion

  On examination, there may be: Eye changes, Retinal lesions, Bulging of the lens (lenticonus), and A high blood pressure. [news-medical.net]

• Hearing Impairment

  Hearing impairment Sensorineural deafness is a characteristic feature observed frequently, but not universally, in patients with Alport syndrome. Some families with Alport syndrome have severe nephropathy but normal hearing. [emedicine.medscape.com]

  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]

  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]

  Clinically distinguish two options: 1) hereditary nephritis with hearing loss (Alport syndrome); 2) hereditary nephritis without hearing impairment. [en.medicine-guidebook.com]

  Hear Res 1998;12184- 98 PubMed Google Scholar Crossref 15. Smith RJHSteel KPBarkway CSoucek SMichaels L A histologic study of nonmorphogenetic forms of hereditary hearing impairment. [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]

  Many people with Alport syndrome also have hearing problems and abnormalities with their eyes. [kidney.org]

• Tinnitus

  Symptoms of Alport syndrome: headache and muscle pain fast fatigue even with low physical exertion dizziness; unstable blood pressure; shallow breathing, shortness of breath; constant tinnitus Violation of biological rhythm (especially in children) Insomnia [brulanta.com]

• Hematuria

  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]

  The proband had experienced microscopic hematuria and occasionally macroscopic hematuria since 3 years of age. [ncbi.nlm.nih.gov]

  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

  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]

  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]

• Macroscopic Hematuria

  The proband had experienced microscopic hematuria and occasionally macroscopic hematuria since 3 years of age. [ncbi.nlm.nih.gov]

  Episodes of gross hematuria may follow sore throats or other infections in children and may be the presenting symptom. Macroscopic hematuria is not common in adults and perhaps a feature of juvenile types of disease. [web.archive.org]

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]

Clinical Testing and Workup The diagnostic approach to confirming a suspected diagnosis of Alport syndrome has been evolving over the past decade. [rarediseases.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]

  When bilateral, kidneys are functional for 5-10 yrs. Constitute 20% of juvenile population on dialysis. What is oligomeganephronia? Small kidneys with exceptionally hypertrophied nephrons. [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]

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]

There is no currently known beneficial treatment for these disorders. [ncbi.nlm.nih.gov]

THE ALPORT SYNDROME TREATMENTS AND OUTCOMES REGISTRY WELCOME! The University of Minnesota's Department of Pediatrics has created the Alport Syndrome Treatments and Outcomes Registry (ASTOR). [web.archive.org]

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]

Treatment of hereditary nephritis depends of the variety of the disease and severity at the time of treatment. [medical-dictionary.thefreedictionary.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 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]

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]

Etiology AS involves a structural defect of type IV collagen, an essential component of the glomerular basal membrane. XLAS is due to mutations in COL4A5 (Xq22.3) gene coding for the alpha 5 chain of type IV collagen. [orpha.net]

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]

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. [cjasn.asnjournals.org]

"Alport Syndrome Pathophysiology". News-Medical. https://www.news-medical.net/health/Alport-Syndrome-Pathophysiology.aspx. (accessed March 28, 2023). Harvard Wilson, Damien Jonas. 2022. Alport Syndrome Pathophysiology. [news-medical.net]

Review Alport Syndrome: A Comprehensive Review on Genetics, Pathophysiology, Histology, Clinical and Therapeutic Perspectives Ana Luisa Pedrosa et al. Curr Med Chem. 2021. [pubmed.ncbi.nlm.nih.gov]

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]

1:16 – Blood smear with schistocytes 1:40 – Von Willebrand’s protein synthesis 02:09 – ADAMTS-13 and TTP pathophysiology 02:43 – How to interpret ADAMTS-13 activity testing and advantage of doing ADAMTS-13 activity testing with Machaon Dx 03:48 – Use [machaondiagnostics.com]

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]

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]

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]