Cystinosis is an autosomal recessive inherited disease that causes disfunction in many organs. The aim of this study is to evaluate the results obtained by applying treatment through a frequency modulation device (bicom bioresonance) in a cystinosis case every week for four years. The study was conducted in a private acupuncture clinic in Eskisehir, Turkey. In the study, the case is firstly pre...

Introduction Nephropathic cystinosis is a rare autosomal recessive disorder caused by a mutation in the CTNS gene, which encodes for cystinosin. It is characterized by the lysosomal accumulation of cystine, which leads to the formation of cystine crystals within various organs, including kidneys, brain, cornea, intestine and bone marrow. The exact role of intralysosomal cystine crystals accumul...

Cystinosis is a rare autosomal recessive disorder characterized by the accumulation of cystine within the cells of different organs. Infantile nephropathic cystinosis is the most common and severe phenotype. With the success of renal transplantation, these patients are now living longer and thus more long-term complications within different organs are becoming apparent. Ophthalmic manifestation...

Cystinosis, the most frequent cause of inborn Fanconi syndrome, is characterized by the lysosomal cystine accumulation, caused by mutations in the CTNS gene. To elucidate the pathogenesis of cystinosis, we cultured proximal tubular cells from urine of cystinotic patients (n = 9) and healthy controls (n = 9), followed by immortalization with human papilloma virus (HPV E6/E7). Obtained cell lines...

Objective: Cystinosis is a rare, autosomal recessive, lysosomal storage disorder characterized by cystine accumulation throughout the body, due to mutations in gene encoding cystinosin, named CTNS. Infantile nephropathic cystinosis (INC), most severe form of disease and common cause renal Fanconi syndrome (FS), starts with proximal tubulopathy causes failure various extra-renal manifestations o...

Nephropathic cystinosis is a rare inherited disease characterized by cristallization of cystine in lyzosomes. Cystine accumulation caused the mutations CTNS gene encoding for cystinosine, transporter. Cystinosis commonly affects kidneys leading to renal Fanconi sysnrome during first year life, followed progressive kidney failure that necessitates initiation replacement therapy childhood or adol...

BACKGROUND The full burden of nephropathic cystinosis in adulthood and the effects of long-term oral cysteamine therapy on its nonrenal complications have not been elucidated. OBJECTIVE To assess the severity of cystinosis in adults receiving and not receiving oral cysteamine therapy. DESIGN Case series. SETTING National Institutes of Health Clinical Center. PATIENTS 100 persons (58 men...

Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information. During studies directed toward population frequency assessments of cystinosis, a rare heritable disorder, we sequenced the CTNS gene from 14 cystinosis-related s...

In patients with nephropathic cystinosis, corneal crystals develop by one year of age; they progressively accumulate and eventually cause recurrent corneal erosions and photophobia. After an in vitro study of cystinotic corneal stromal cells showed cystine depletion by cysteamine and after topical cysteamine was determined to be nontoxic in rabbits, we performed a controlled double-blind clinic...

Cystinosis is a rare autosomal recessive disease with an incidence of approximately 1 case per 100,000-200,000 live births. Over the years, gaining in-depth knowledge of the disease has led to vast improvement in patient life expectancy. However, debilitating, extra-renal manifestations such as eye disease, in particular corneal crystal deposition and its associated photophobia, still occur fre...