What is nephropathic cystinosis?

What is nephropathic cystinosis?

Introduction. Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder leading to end-stage renal disease and many extra-renal complications with crystal deposition in the conjunctiva and cornea being the most prominent.

What is infantile nephropathic cystinosis?

Nephropathic cystinosis is a rare disease that usually appears in infants and children at a young age. It is a life-long condition, but available treatments, such as cysteamine therapy and kidney transplantation, have allowed people with the disease to live longer.

Who treats nephropathic cystinosis?

A CIRCLE OF SUPPORT At the start, the team may include the patient’s nephrologist (kidney specialist), pharmacist, and pediatrician (for children) or primary care physician (for adults). A nephrologist is a specialist in kidney disease and is the primary healthcare provider for cystinosis patients.

How is cystinosis treated?

Cystine-depleting therapy. The aminothiol cysteamine (beta-mercaptoethylamine) is currently the only target-specific treatment for cystinosis patients. It aims to deplete lysosomal cystine in all body cells and tissues.

What happens in cystinosis?

Cystinosis is a condition characterized by accumulation of the amino acid cystine (a building block of proteins) within cells. Excess cystine damages cells and often forms crystals that can build up and cause problems in many organs and tissues.

Is cystinuria considered a kidney disease?

Cystinuria is a chronic condition and many affected people experience recurrent cystine stones in the urinary tract (kidneys, bladder and ureters). In rare cases, frequent kidney stones can lead to tissue damage or even kidney failure.

Is interstitial nephritis reversible?

The infection-induced and idiopathic types of acute interstitial nephritis were always reversible. Drug-related acute interstitial nephritis caused permanent renal insufficiency in 36% with a maximum of 56% in NSAID-induced cases.

What is the disease that makes you cry crystals?

What is the life expectancy of someone with cystinuria?

Prior to 1960, the average longevity of men with cystinuria was 37 years3~. A Swedish serieslater gave an average life expectancy of 52 years for men and 64 years for women’4.

Which is the non nephropathic form of cystinosis?

The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation. Images (2)

When to know if your child has nephropathic cystinosis?

Children at birth with nephropathic cystinosis are generally asymptomatic and normal in weight and length. The first noticeable clinical signs of infantile cystinosis generally appear between 6 and 12 months of age. Symptoms can include poor growth, feeding intolerance, and episodes of volume depletion (dehydration).

Which is the most severe form of cystinosis?

Nephropathic cystinosis is the most severe and most common form of cystinosis, making up 95% of all cases. Nephropathic cystinosis causes severe damage to kidneys and other organs all over the body. Nephropathic cystinosis generally affects boys more than girls and most often occurs in blond-haired, blue-eyed children of European descent.

Is the serum creatinine normal in nephropathic cystinosis?

Urinalysis in patients with nephropathic cystinosis can show a low specific gravity, overt glucosuria (with normal serum glucose), and mild-to-moderate albuminuria. Serum creatinine is usually normal in young children, unless they are dehydrated.