Nephropathic cystinosis in a developing country: The Egyptian experience

Soliman, Neveen A.; Bazaraa, Hafez; Hamid, Rehab H. Abdel; Badawi, Nora

doi:10.4103/1319-2442.106315

Cited by 12 publications

(7 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It is noted that both groups had elevated yet comparable WBC cystine levels. This was previously observed in Egyptian children with cystinosis with undertreatment contributing to other cystinosis complications such as growth retardation and kidney failure [41].…”

Section: Tablementioning

confidence: 55%

Clinical and neurophysiological characterization of early neuromuscular involvement in children and adolescents with nephropathic cystinosis

et al. 2021

View full text Add to dashboard Cite

Background Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by kidney and extra-renal complications due to the accumulation of cystine crystals in various tissues and organs. Herein, we describe the early neuromuscular complications in a cohort of pediatric nephropathic cystinosis patients. Methods We prospectively evaluated the clinical, biochemical, and neurophysiological data of 15 cystinosis patients. Neurophysiological evaluation was performed to confirm or exclude presence of neuropathy and/or myopathy. Results Patients' age ranged between 20 and 216 months at time of examination. Nine patients were males. Three patients had early abnormal neurophysiological features consistent with neuromuscular involvement (clinically asymptomatic proximal myopathy with a patchy distribution in one patient and isolated asymptomatic sensory nerve conduction changes in two patients). A fourth patient had mixed abnormal motor and sensory axonal neuropathic changes associated with overt clinical features (predominantly motor symptoms). Patients with abnormal neuromuscular features were significantly older in age than the unaffected group (P = 0.005) and had a diagnosis of cystinosis with subsequent cysteamine therapy at a significantly older age than the unaffected group (P = 0.027 and 0.001, respectively). Conclusions We expanded the recognized phenotypes of cystinosis neuromuscular complications with early proximal skeletal myopathy and symptomatic motor and sensory axonal neuropathy. Early asymptomatic neuromuscular complications could develop in pediatric patients and would require neurophysiological studies for early detection prior to development of overt clinical manifestations. Prompt diagnosis and timely initiation of cysteamine therapy with recommended dose can delay the development of neuromuscular complications.

show abstract

Section: Tablementioning

confidence: 55%

Clinical and neurophysiological characterization of early neuromuscular involvement in children and adolescents with nephropathic cystinosis

et al. 2021

View full text Add to dashboard Cite

show abstract

“…The CTNS genotype is definitely an important one (Attard et al 1999); however, delayed diagnosis in many of our patients, underdosage due to financial or logistical problems, and differences in response to cysteamine therapy may all be implicated (Soliman et al 2013). …”

Section: Discussionmentioning

confidence: 85%

Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis

et al. 2014

View full text Add to dashboard Cite

Background: Nephropathic cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene, encoding for cystinosin, a carrier protein transporting cystine out of lysosomes. Its deficiency leads to cystine accumulation and cell damage in multiple organs, especially in the kidney. In this study, we aimed to provide the first report describing the mutational spectrum of Egyptian patients with nephropathic cystinosis and their genotype-phenotype correlation.Methods: Fifteen Egyptian patients from 13 unrelated families with infantile nephropathic cystinosis were evaluated clinically, biochemically, and genetically. Screening for the common 57-kb deletion was performed by standard multiplex PCR, followed by direct sequencing of the ten coding exons, exon-intron interfaces, and promoter region.

show abstract

“…In countries with high consanguinity rates, such as North African and Middle Eastern populations, the prevalence of the disease is clearly higher than Europe, the USA and Japan, and its real extent and burden remain largely unknown [ 13 , 15 , 20 , 21 ]. The only available data emanate from isolated referral center reports and case series, with small numbers of patients [ 6 , 13 , 16 , 22–25 ]. To get a better understanding of genotype–phenotype correlations in such populations, precise epidemiological data are needed.…”

Section: Epidemiological Perspectivementioning

confidence: 99%

Primary hyperoxaluria type 1 in developing countries: novel challenges in a new therapeutic era

Soliman

Mabrouk

2022

Clinical Kidney Journal

View full text Add to dashboard Cite

Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inborn error of metabolism characterized by marked hepatic overproduction of oxalate due to deficiency of hepatic peroxisomal alanine-glyoxylate aminotransferase caused by AGXT gene mutation. One major hallmark of PH1 in developed as well as developing countries (DC) is the diagnostic delay. Notably in DC, where the disease is most prevalent and probably underdiagnosed, there are many challenges in PH1 diagnosis and management, with economic constrains and ethical concerns. This has led to the existing gap in the management of PH1 between developed and DC, which is expected to further deepen with the advent of novel therapeutic agents unless appropriate actions are taken. Until recently, treatment possibilities were limited to supportive measures. Thanks to a better understanding of the molecular basis of the disease a number of new therapies are developed, or being developed, leading to profound changes in management strategies. In this review we discuss the current situation of PH1 in DC as well as the accessibility challenges and the advantages of using promising novel therapeutics to bridge the currently existing gap. We also provide an overview of an integrated approach to ensure equitable access of sustainable therapeutics to PH1 patients in DC. This is expected to reduce global PH1 healthcare disparities, improve its standard of care and reduce disability linked to extrarenal complications of PH1 by implementing personalized medicine.

show abstract

Nephropathic cystinosis in a developing country: The Egyptian experience

Cited by 12 publications

References 0 publications

Clinical and neurophysiological characterization of early neuromuscular involvement in children and adolescents with nephropathic cystinosis

Clinical and neurophysiological characterization of early neuromuscular involvement in children and adolescents with nephropathic cystinosis

Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis

Primary hyperoxaluria type 1 in developing countries: novel challenges in a new therapeutic era

Contact Info

Product

Resources

About