scholarly journals Nephropathic infantile cystinosis

2020 ◽  
Author(s):  
Keyword(s):  
Infantile Cystinosis

INFANTILE CYSTINOSIS

2009 ◽  
Vol 30 (4) ◽  
pp. 365-377 ◽  
Author(s):  
Poul Braendstrup
Keyword(s):  
Infantile Cystinosis

scholarly journals Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation

2018 ◽  
Vol 6 (9) ◽  
pp. 1871-1876
Author(s):  
Kozina A. Anastasiya ◽  
Okuneva G. Elena ◽  
Baryshnikova V. Natalia ◽  
Krasnenko Yu. Anna ◽  
Tsukanov Yu. Kirill ◽  
...  
Keyword(s):  
Infantile Cystinosis ◽  
Russian Patient

scholarly journals Early blindness due to retinopathy of infantile cystinosis

Eye ◽  
2000 ◽  
Vol 14 (5) ◽  
pp. 804-805
Author(s):  
B.Y.P. Chang ◽  
N.D.L. George
Keyword(s):  
Infantile Cystinosis ◽  
Early Blindness

ADOLESCENT CYSTINOSIS: COMPARISONS WITH INFANTILE AND ADULT FORMS

PEDIATRICS ◽  
1971 ◽  
Vol 47 (6) ◽  
pp. 979-988
Author(s):  
H. Goldman ◽  
C. R. Scriver ◽  
K. Aaron ◽  
E. Delvin ◽  
Z. Canlas
Keyword(s):  
Steady State ◽  
Gene Dosage ◽  
Intracellular Concentration ◽  
Gene Products ◽  
Clinical Prognosis ◽  
Cystine Content ◽  
Infantile Cystinosis ◽  
New Form

Two adolescent siblings with a new form of cystinosis are distinctive because of their present age (15 and 14 years), their mild nephropathy, and the absence of retinopathy and pigmentary changes. The intracellular concentration of free cystine in their fibroblasts and leukocytes is 3 to 6 µmoles/gm protein, which is lower than in fatal infantile cystinosis and slightly higher than in the benign adult trait. The cystine is localized predominantly in the "granular" fraction. Both parents of the adolescent cystinotic siblings have excessive cystine retention in fibroblasts and leukocytes in the range which is typical of infantile cystinotic heterozygotes but cystine storage is not directly proportional to gene dosage. Dithiothreitol reduces the cystine content of "adolescent" fibroblasts, as it does in "infantile" cells. The three cystinotic traits indicate that several mutant alleles, at one or more gene loci, affect one or more gene products which control the steady-state of cystine metabolism in the cell. Clinical prognosis is apparently influenced to some extent by the severity of cystine retention.

Renal transplantation for infantile cystinosis: Long-term follow-up

1992 ◽  
Vol 27 (3) ◽  
pp. 398
Author(s):  
S. Almond ◽  
P. Morel ◽  
A. Matas ◽  
M. Mauer ◽  
T. Nevins ◽  
...  
Keyword(s):  
Renal Transplantation ◽  
Long Term Follow Up ◽  
Infantile Cystinosis

Ocular changes in long-term evolution of infantile cystinosis

1987 ◽  
Vol 8 (2) ◽  
pp. 131-137 ◽  
Author(s):  
J. L. Dufier ◽  
P. Dhermy ◽  
M. C. Gubler ◽  
M. F. Gagnadoux ◽  
M. Broyer
Keyword(s):  
Long Term Evolution ◽  
Term Evolution ◽  
Infantile Cystinosis ◽  
Ocular Changes

scholarly journals Infantile cystinosis in France: genetics, incidence, geographic distribution.

1976 ◽  
Vol 13 (6) ◽  
pp. 434-438 ◽  
Author(s):  
E Bois ◽  
J Feingold ◽  
P Frenay ◽  
M L Briard
Keyword(s):  
Geographic Distribution ◽  
Infantile Cystinosis

In vivo reflectance confocal microscopy of the skin: A noninvasive means of assessing body cystine accumulation in infantile cystinosis

2013 ◽  
Vol 68 (4) ◽  
pp. e111-e116 ◽  
Author(s):  
Christine Chiavérini ◽  
Hee-Young Kang ◽  
Laura Sillard ◽  
Etienne Berard ◽  
Patrick Niaudet ◽  
...  
Keyword(s):  
Confocal Microscopy ◽  
Reflectance Confocal Microscopy ◽  
Infantile Cystinosis

Diabetes mellitus in patients with infantile cystinosis after renal transplantation

1999 ◽  
Vol 13 (6) ◽  
pp. 524-529 ◽  
Author(s):  
J.-J. Robert ◽  
M.-J. Tête ◽  
G. Guest ◽  
M.-F. Gagnadoux ◽  
P. Niaudet ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Renal Transplantation ◽  
Infantile Cystinosis

scholarly journals Infantile Nephropathic Cystinosis in Sulaimani Pediatric Teaching Hospital: A Retrospective Cohort Study

2018 ◽  
Vol 3 (1) ◽  
pp. 5-8
Author(s):  
Hunar Jamal Hussein ◽  
Khalid Hama Salih ◽  
Adnan Mohammed Hasan
Keyword(s):  
Cohort Study ◽  
End Stage Renal Disease ◽  
Retrospective Cohort ◽  
Positive Family History ◽  
The Other ◽  
P Value ◽  
History Of ◽  
Infantile Cystinosis ◽  
Stage Renal Disease ◽  
End Stage

Cystinosis is a rare metabolic autosomal recessive disorder which characterized by intralysosomal accumulation of cystine. There are three forms; infantile nephropathic is the commonest forms. to evaluate clinical presentations and outcome of infantile cystinosis. A retrospective cohort study conducted in Sulaimani Pediatric Teaching Hospital on 25 patients with infantile cystinosis during May 1, 2014, to June 1, 2017. This study has depended on clinical symptoms and signs, and corneal crystallization for the diagnosis of cystinosis. Gender of the patients was 13 (52%) females and 12 (48%) males. The ages were ranged between (1-12 years) with a mean age of (6.25 years). Eight (32%) patients were from Sulaimani city, but the other 17 (68%) patients were from outside of Sulaimani. Moreover, a 17 (68%) of them were Arabic and the other eight (32%) were Kurdish ethnic groups. The study showed a 20 (80%) positive consanguinity with 19 (76%) positive family history of infantile cystinosis. Additionally, the age of first presentations was between (0.25-2 years) with a mean of (0.8 years). Clinical features included a 100% for polyuria, polydipsia, and failure to thrive. Furthermore, 10 (40%) presented with constipation, 23 (92%) photophobia and 5 (20%) blond hair. Complications included 24 (96%) rickets, 14 (56%) renal insufficiency, 5 (20%) hypothyroidism, 4 (16%) genu valgum, 3 (12%) growth hormone deficiency, and 3 (12%) developed end-stage renal disease. Subsequently, two patients died (8%) due to end-stage renal disease. Finally, there was a statistically significant relationship between both renal insufficiency (P-value = 0.042) and hypothyroidism (P-value < 0.001) with Kurdish ethnicity. Conclusion: Incidence of cystinosis was high among consanguineous parents and those patients who had a positive family history of cystinosis. Furthermore, the delay in diagnosis was due to atypical presentations and unavailability of specific investigations.

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