Characteristics and causes of Fanconi anemia

Fanconi anemia (FA) is a recessive disease presents with growth retardation, congenital malformations, bone marrow failure, high risk of neoplasia, and premature aging. Genomic instability causing chromosomal breakage, cell cycle disturbance, and increased somatic mutation rates are some molecular causes of the disease. Along with chromosomal fragility, hypersensitivity to DNA cross-link drugs is seen. Patients will have a progressive pancytopenia and macrocytosis. Deformities include, café au lait spots, microcephaly, micropthalmia, short staure, horseshoe kidneys and ABSENT thumb.

Reference:

Genome Dyn.Fanconi anemia: causes and consequences of genetic instability. Kalb R, Neveling K, Nanda I, Schindler D, Hoehn H.

Age related changes to kidneys

The aging kidney is characterized by:

1. Loss of renal mass
2. Arterial sclerosis
3. Arteriolar hyalinosis
4. An increased number of sclerotic glomeruli
5. Loss of tubules
6. Interstitial fibrosis.

Genetics, hemodynamic factors, diabetes and hypertension all affect changes in the kidney function

Reference:

J Nephrol. The aging kidney: structural changes.Pannarale G, Carbone R, Del Mastro G, Gallo C, Gattullo V, Natalicchio L, Navarra A, Tedesco A.

New treatments for Chronic kidney disease (CKD)

 

Erythropoiesis stimulating agents (ESAs) fix anemia in patients with chronic kidney disease (CKD). Recombinant human erythropoietin (EPO) is one example. Peginesatide , inhibitors of hypoxia-inducible transcription factor, gene therapy, EPO fusion proteins, drugs that inhibit GATA and hematopoietic cell phosphatase are experimental therapies being tested. Anemia management using both iron and/or ESAs is a successful strategy used by clinicians. Intravenous (IV) iron such as Ferumoxytol (Feraheme) and ferric carboxymaltose (Ferinject)do not require a test dose, and a much higher dose of iron can be delivered as a single administration.

Reference:

Curr Opin Investig Drugs. Chronic kidney disease-associated anemia: new remedies. Del Vecchio L, Cavalli A, Tucci B, Locatelli F.

Effects of metabolic syndrome on kidney function

Abdominal obesity leads to a prothrombotic condition thereby increasing the risk of cardiovascular disease. This is very commonly seen in patients who have metabolic syndrome. Recently, research has shown that body mass index increases, insulin resistance and increased fasting insulin levels may cause chronic kidney disease.

So what are the risk factors for patients who have metabolic syndrome in terms of their kidney health?

1. The combination of dysglycemia and high blood pressure caused in metabolic syndrome predisposes patients to kidney problems.
2. Patients with atherosclerotic renal artery stenosis who underwent hemodialysis had worsening kidney function.
3. Moreover, patients with metabolic syndrome have worse outcomes  for dialysis access procedures.

Reference:

Vykoukal D, Davies MG.Metabolic syndrome and outcomes after renal intervention.Cardiol Res Pract. 2010

Does pomegranate juice offer benefits for patients on dialysis?

Does pomegranate juice  offer benefits for patients on dialysis? A new study showed that infact it may help reduce inflammation thereby lowering cardiovascular morbidity of patients with chronic kidney disease. More studies need to be conducted to understand how oxidative stress is reduced by the antioxidant properties of pomegranate juice.

Reference:

American Society of Nephrology (2010, November 19). Pomegranate juice reduces damage to tissues, inflammation and infections, study suggests. American Society of Nephrology's 43rd Annual Meeting and Scientific Exposition ScienceDaily

Nephrotic syndrome–causes and new hope for treatment

New research has found that Angiopoietin-like 4 is increased in the podocytes of patients with nephrotic syndrome resulting in a reduction of the kidney's filtering ability. Loss of proteins through urine causes nephrotic syndrome. Other features of the disease include low levels of blood-protein, increased cholesterol, high triglycerides and swelling.

A research study found that inadequate amounts of sialic acid(a carb that affects adhesion) is not present in the angiopoietin-like 4 protein. Nephrotic syndrome includes diseases such as nephropathy in diabetics, minimal change disease, focal and segmental glomerulosclerosis and membranous nephropathy.

Attaching sialic acid precursor N-acetyl-D-mannosamine (ManNAc) decreased albuminuria by increased the sialylation of Angptl4.

Reference:

Podocyte-secreted angiopoietin-like-4 mediates proteinuria in glucocorticoid-sensitive nephrotic syndrome.
Clement LC, Avila-Casado C, Macé C, Soria E, Bakker WW, Kersten S, Chugh SS.
Glomerular Disease Therapeutics Laboratory, and Nephrology Research and Training Center, University of Alabama at Birmingham, Birmingham, Alabama, USA