Lysosomal Storage Disorders in Egyptian Children

Elmonem, Mohamed A.; Mahmoud, Iman G.; Mehaney, Dina A.; Sharaf, Sahar A.; Hassan, Sawsan; Orabi, Azza; Salem, Fadia; Girgis, Marian; El-Badawy, Amira; Abdelwahab, Magy; Salah, Zeinab; Soliman, Neveen A.; Hassan, Fayza A.; Selim, Laila

doi:10.1007/s12098-015-2014-x

Cited by 29 publications

(33 citation statements)

References 28 publications

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“…Other genotypes included homozygous N409S in two patients (6.6%), homozygous S431F in two patients (6.6%), and homozygous D448H in one patient (3.3%). In concordance with these results Elmonem et al, reported that the most frequent genotype in Egyptian GD was L483P, with lower frequency of N409S. Similarly, El‐Beshlawy et al, reported that homozygous L483P was the most prevalent mutation among Egyptian GD patients, with lower frequency of D448H homozygous mutation, compound heterozygous for L483Pand D448H, R398Q homozygous and compound heterozygous for N409S allele.…”

Section: Discussionsupporting

confidence: 52%

Pulmonary manifestations in young Gaucher disease patients: Phenotype‐genotype correlation and radiological findings

Tantawy

Adly

Madkour

et al. 2019

Pediatric Pulmonology

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Background Although pulmonary involvement is important orbidity in Gaucher disease (GD), it is previously reported to be rare. Moreover, no epidemiological studies described its prevalence specifically in children. The clinical spectrum and risk determinants for this complication and its long‐term response to therapy are unknown. Aim To assess the prevalence of clinical and radiological pulmonary involvement in pediatric GD patients and its relation to Gaucher severity and genotype. Methods Forty‐eight GD patients were studied focusing on pulmonary and neurological manifestations with assessment of severity scoring index (SSI; a Gaucher specific scale). Detailed enzyme replacement therapy (ERT) history was taken regarding dose, duration, and effect on pulmonary manifestations. Genotype was performed to 30 patients. Radiological investigations included plain chest‐radiography (CXR), high‐resolution CT (HRCT), and hepatic and splenic volumes. Results Fifteen patients had type 1 (31.2%) and 33 patients had type 3 GD (68.8%). The most common mutation was L483P detected in 25 patients (83.3%). Sixteen patients had recurrent chest wheeze (33%). CXR showed pulmonary findings in 17 patients (35.4%) while HRCT‐chest showed affection in 31 patients (64.6%). The ground‐glass pattern was present in 14 patients (29.1%), reticulonodular infiltration in 9 patients (18.8%), air trapping in 6 patients (12.5%), and bronchiectatic changes in two patients (4.2%). Univariate logistic regression analysis for predictors of abnormal HRCT‐chest was negatively correlated with platelets (P = .01) and hemoglobin (P = .018) and positively correlated with recurrent chest wheezing (P = .019), abnormal CXR (P = .007), and SSI (P = .009). Conclusion Pulmonary involvement is a prevalent morbidity of GD with variable presentations. CXR for early detection of pulmonary involvement in GD is safe and highly predictive.

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Section: Discussionsupporting

confidence: 52%

Pulmonary manifestations in young Gaucher disease patients: Phenotype‐genotype correlation and radiological findings

Tantawy

Adly

Madkour

et al. 2019

Pediatric Pulmonology

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“…Since cystinosis is an autosomal recessive disease, its incidence is expected to be affected by the extent of consanguinity in the community. Accurate statistical data about the incidence of cystinosis in regions with high consanguinity such as Middle East and North Africa are still lacking; however, cystinosis was fairly commonly detected among a large cohort of different lysosomal storage disorders diagnosed over a six year period in Egypt (29/211 patients (13.7 %)) [ 17 ].…”

Section: Introductionmentioning

confidence: 99%

Cystinosis: a review

Elmonem

Veys

Soliman

et al. 2016

Orphanet J Rare Dis

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228

244

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Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein cystinosin, transporting cystine out of the lysosomal compartment. Defective cystinosin function leads to intra-lysosomal cystine accumulation in all body cells and organs. The kidneys are initially affected during the first year of life through proximal tubular damage followed by progressive glomerular damage and end stage renal failure during mid-childhood if not treated. Other affected organs include eyes, thyroid, pancreas, gonads, muscles and CNS. Leucocyte cystine assay is the cornerstone for both diagnosis and therapeutic monitoring of the disease. Several lines of treatment are available for cystinosis including the cystine depleting agent cysteamine, renal replacement therapy, hormonal therapy and others; however, no curative treatment is yet available. In the current review we will discuss the most important clinical features of the disease, advantages and disadvantages of the current diagnostic and therapeutic options and the main topics of future research in cystinosis.

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“… 9 – 12 In contrast, this commonly reported 57-kb deletion has not been encountered in non-European countries, such as Egypt and Turkey, highlighting the array of varied mutations within different population groups. 13 – 15 Typically, the mutation involved in infantile cystinosis leads to complete loss of cystine transport protein, whereas that involved in adolescent and ocular cystinosis leads to a reduction in the functioning cystine transport system. 16 , 17 Crystal production from a defective or diminished transport system and subsequent accumulation of cystine leads to a variety of phenotypes.…”

Section: Introduction To Epidemiology Etiology and Pathophysiology mentioning

confidence: 99%

Cysteamine hydrochloride eye drop solution for the treatment of corneal cystine crystal deposits in patients with cystinosis: an evidence-based review

Makuloluwa

Shams

2018

OPTH

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Lysosomal Storage Disorders in Egyptian Children

Cited by 29 publications

References 28 publications

Pulmonary manifestations in young Gaucher disease patients: Phenotype‐genotype correlation and radiological findings

Pulmonary manifestations in young Gaucher disease patients: Phenotype‐genotype correlation and radiological findings

Cystinosis: a review

Cysteamine hydrochloride eye drop solution for the treatment of corneal cystine crystal deposits in patients with cystinosis: an evidence-based review

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