Rare Inherited Kidney Diseases: The Future of the Treatment!

As we all know, kidneys are extremely vital to the human body. Their main function is to filter the body’s blood. The process removes waste and reabsorbs the minerals and hormones that the body needs for sustained health.

A process known as endocytosis goes into effect and allows bigger molecules to pass through the cell membrane to be used by the body. There are natural ways with herbs to help cleanse your kidneys that can help your kidney function properly and help sustain healthier kidney functions. But there are a few rare inherited kidney diseases that can interfere with this process.

The connection with genetics materialized in nephrology during the 1980s. The creation of positional cloning and linkage analysis allowed for mapping to the gene site of the most common type of polycystic kidney disease (ADPKD, 1985).

With this knowledge, identification of the first mutation accountable for a monogenic kidney disorder (Alport syndrome, 1990) was noted. Following this milestone, there was varying identification of genes involved in a cycle of traditional glomerular and tubular disorders.

The known rare inherited kidney diseases are:
  • Nephrogenic Diabetes
  • Liddle Syndrome
  • Dent Disease
  • Bartter
  • Gitelman Syndromes
  • Fanconi syndrome due to nephropathic cystinosis
  • Steroid resistant nephrotic syndrome.

The discovery of the molecular basis of these specific disorders was significant in defining essential mechanisms that were predicted by former pharmacological and physiological approaches.

A disorder sometimes left out of the inherited list is hemolytic anemia. This is a condition where red blood cells are eradicated faster than the body can reproduce them. The process of destroying red blood cells is known as hemolysis. The effects of this is called anemia. The body needs red blood cells in order to carry oxygen to all of its parts. This disorder can be inherited or acquired.

Immunoglobulin A (IgA) nephropathy is a chronic disease of the kidneys that can also be inherited. For more than 10% of families affected, it is. It progresses more than a span of 10 to 20 years with a build up of symptoms. Ultimately it and can result in end-stage renal disease. It is caused by collections of immunoglobulin A (IgA), which is a protein, within filters (glomeruli) on the inside of the kidneys. 

These glomeruli generally filter excess water and waste from the blood. Ultimately, the filtered result is sent off to the bladder in the form of urine. Conversely, the IgA protein thwarts the filtering process. This is most often the frequent root of inflammation in the glomerulus. It is more common in Caucasians and Asians. Teenagers to those in their late 30s are more likely to be found with this malady.

Symptoms can appear as:

(Hematuria and Proteinuria) blood and protein test positive in the urine 
• (Edema) swelling occurs in the hands and the feet 

The IgA protein actually is a normal part of the immune system in the body. It has not been discovered as to what causes IgA collections in the glomeruli. Some that inherit the gene may not experience any symptoms. In addition, it is possible for some carriers to pass on the gene. The disease is seen in men more than women.

At present, genetics are at the center of over 160 rare kidney diseases that have been defined. With the oversimplification of elevated throughput and subsequent generations sequencing technologies, a growing quantity of clinically distinct renal disorders have been recognized to have a genetic origin. 

These kidney disorders are formed by mutations in a vast array of genes coding for proteins supporting the development and multifaceted functions of the kidney. The assortment of proteins includes channels, receptors, exchangers, enzymes, co-transporters, and transcription factors. These are structural workings that could also play a responsibility in additional renal organs like eyes, bones, and the brain. Consistent analyses based on urine samples are helpful in determining the source of these disorders. 

There are a number of people, including celebrities, which have been affected by various kidney diseases. Comedian, George Lopez, inherited kidney disease and is a transplant recipient. Professional poker player, Jennifer Harman, has a hereditary kidney disease and has received two transplants.

The future of treatment is quite promising. At present, perhaps the most prominent advances are now being made in the molecular genetics field. Next generation sequencing (NGS) procedures hold immense promise for civilizing the diagnostic effectiveness of rare genetic renal diseases. NGS allows instantaneous investigation of every disease genes pertinent in the circumstance of a given phenotype. 

The new treatments and alternative solutions come at reduced costs and completion times. Triumphant application of NGS in diagnostic mutation testing, by means of disease precise multi-gene panels, has by now been shown for quite a few rare genetic renal disorders. Promise has been shown with locus heterogeneity, such as steroid-resistant nephrotic syndrome, Alport syndrome, and nephronophthisis. 

Beyond the ailment specific NGS panels, exome sequencing and potentially more so the whole genome sequencing, will soon become part of routine molecular diagnostics. The foundation for the  (NORD) are essential to the cause.

Some of their operations comprise funding research, spreading information, lobbying for legislation to support the rare diseases population, and assisting individuals with rare diseases afford various types of treatments and medication both conventional and alternative.  This is expected to additionally improve the diagnostic yield for rare inherited kidney diseases.

With the use of conventional medicine and alternative medicine we can hopefully find the proper treatment for these rare diseases and offer hope and a healthier future for those that lives have been compromised by kidney disease. Eating a nutritious and balanced diet filled with healthy organic foods, eliminating processed foods, and making sure that we get the proper nutrition is always a step forward to fighting off any disease. Living a healthy lifestyle is always a move in the right direction to a healthy mind and body.  


University of Leeds Press Office. “Findings provide new therapeutic route for rare kidney disease”. Health News.2010.URL: https://www.leeds.ac.uk/news/article/833/findings_provide_new_therapeutic_route_for_rare_kidney_disease%22%3Eendocytosis

Devuyst, O, Knoers N, Remuzzi G, Schaefe, F. “Rare inherited k. d.: challenges, opportunities, and perspectives”. Zurich Open Repository and Archive, University of Zurich ZORA. 2014.URL: http://www.zora.uzh.ch/id/eprint/97243/1/Devuyst_THELANCET-S-13-11643-1_check_time_of_publication.pdf

The Johns Hopkins University, The Johns Hopkins Hospital, Johns Hopkins Health System. “H. A.”. HealthLibrary. n.d.URL: http://www.hopkinsmedicine.org/healthlibrary/conditions/hematology_and_blood_disorders/

The Johns Hopkins University, The Johns Hopkins Hospital, Johns Hopkins Health System. “Immunoglobulin A (IgA) Nephropathy”. Health Library. n.d.URL: http://www.hopkinsmedicine.org/healthlibrary/conditions/adult/kidney_and_urinary_system_disorders/immunoglobulin_a_iga_nephropathy_85,p01481

University Kidney Research Organization. “Celebrities and Athletes with Kidney Disease”. Our Stories. n.d.URL: http://ukrocharity.org/our-stories/celebrities-and-athletes-with-kidney-disease/

Jain,B,Basil,A.“IgANephritis”. HospitalMedicine. 2013. URL: http://www.renalandurologynews.com/hospital-medicine/iga-nephritis/article/602115/

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