Congential kidney diseases are conditions that individually affect a small number of people but collectively have a major impact on public health. There are over 100 different types of Congential kidney diseases that can damage the kidneys and lead to kidney failure. These diseases are quite diverse in their triggers and manifestations. Let’s take a deeper look at some of the less common causes of chronic kidney disease and end-stage renal failure.
Autosomal Recessive Polycystic Kidney Disease
One rare disease affecting kidney function is autosomal recessive polycystic kidney disease (ARPKD). ARPKD is a genetic disorder caused by a mutation in the PKHD1 gene. This mutation results in the abnormal development of tubes (cysts) in both kidneys from a young age. The cysts progressively enlarge and cause the kidneys to become larger and function poorer over time. Symptoms of ARPKD often appear in infancy or childhood and include high blood pressure, liver disease, and kidney failure. There is currently no cure for ARPKD, though treatments such as blood pressure medication and dialysis may help manage symptoms.
Medullary Rare Kidney Disease
Another hereditary cystic kidney condition is medullary cystic Rare Kidney Disease (MCKD). Like ARPKD, it is caused by a genetic mutation and leads to cyst formation in the kidneys. However, MCKD affects different regions of the kidneys called the medulla. Symptoms tend to appear later in life compared to ARPKD, often in late adulthood. Common symptoms are kidney stones, urinary tract infections due to cyst Blockage, flank pain, and worsening kidney function over decades that eventually requires dialysis or transplant. Lifestyle modifications to control high blood pressure and protein in the urine can help slow disease progression.
Fabry Disease
Fabry disease is an uncommon X-linked lysosomal storage disorder caused by deficient activity of the enzyme alpha-galactosidase A. This enzyme breakdown a substance called globotriaosylceramide (Gb3) which builds up in cells and blood vessels throughout the body. In the kidneys, Gb3 accumulation leads to abnormal protein deposits within glomeruli and tubules, progressive scarring, and loss of function. Symptoms of Fabry nephropathy include proteinuria, hematuria, and a gradual decline in kidney function requiring dialysis or transplant by middle age. Enzyme replacement therapy to supplement the missing enzyme can help manage Fabry disease if started early.
Alport Syndrome
Another genetic disease affecting the kidneys is Alport syndrome. It is caused by mutations in one of three genes (COL4A3, COL4A4, COL4A5) required for the production of collagen type IV. Collagen type IV is an important component of basement membranes found in the kidneys, eyes, and ears. Without functional collagen type IV, basement membranes break down over time. In the kidneys, this manifests as glomerular basement membrane thinning and splitting. Symptoms include hematuria, proteinuria, high blood pressure, and slowly worsening kidney function. Unfortunately, there is no cure for Alport syndrome at this point, though supportive care such as blood pressure control and dialysis/transplant if needed.
Congenital Anomalies Of The Kidneys And Urinary Tract
Developmental abnormalities in fetal kidney formation during pregnancy can also cause Rare Kidney Disease. One example is multicystic dysplastic kidney disease where the kidneys are replaced by fluid-filled cysts and do not properly function. Another is renal hypodysplasia where kidneys are small and lack normal internal architecture/filtering units. Congenital urinary tract abnormalities like horseshoe kidney also contribute to chronic kidney disease in some individuals. Postnatally, symptoms may include urinary tract infections, kidney stones, high blood pressure, and impaired kidney function requiring dialysis or transplant in severe cases. Antenatal diagnosis and monitoring for complications is key.
Immune Complex Nephritis
Some Rare Kidney Disease are caused by impaired immunity that leads to antibody production against the kidneys. One such condition is immune complex nephritis where antibodies complex with the target antigen in the kidney, forming immune complexes that deposit along the glomerular basement membrane or in the glomerular mesangium. This triggers an inflammatory reaction and damage to glomeruli over time, resulting in proteinuria and declining kidney function. Systemic lupus erythematosus, cryoglobulinemia, and infections are possible underlying etiologies for secondary immune complex glomerulonephritis. Treatment aims to control the immune response and halt further kidney injury.
Rhabdoid Tumor Nephropathy
Rhabdoid tumor predisposition syndrome is an equally rare disorder caused by mutations in the SMARCB1 or SMARCA4 genes that are important for chromatin remodeling. Children with rhabdoid tumor predisposition syndrome are highly susceptible to developing rhabdoid tumors, an aggressive form of cancer. Interestingly, affected individuals commonly present with renal failure attributed to multifocal bilateral renal cysts and tubular abnormalities termed rhabdoid tumor nephropathy. Whether this is due to direct kidney involvement by rhabdoid tumors or a separate predisposition to kidney disease is still unclear. Currently the only definitive treatment for rhabdoid tumor nephropathy is kidney transplantation.
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1. Source: Coherent Market Insights, Public sources, Desk research
2. We have leveraged AI tools to mine information and compile it
About Author – Vaagisha Singh
Vaagisha brings over three years of expertise as a content editor in the market research domain. Originally a creative writer, she discovered her passion for editing, combining her flair for writing with a meticulous eye for detail. Her ability to craft and refine compelling content makes her an invaluable asset in delivering polished and engaging write-ups. LinkedIn