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

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.

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Freud’s Unknown Russian Patient

Poetry and Psychiatry ◽

10.2307/j.ctt1zxsj5p.16 ◽

2018 ◽

pp. 115-123

Keyword(s):

Russian Patient

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

Journal of Pediatric Surgery ◽

10.1016/0022-3468(92)90896-f ◽

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

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Ocular changes in long-term evolution of infantile cystinosis

Ophthalmic Paediatrics and Genetics ◽

10.3109/13816818709028529 ◽

1987 ◽

Vol 8 (2) ◽

pp. 131-137 ◽

Cited By ~ 38

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

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

Journal of Medical Genetics ◽

10.1136/jmg.13.6.434 ◽

1976 ◽

Vol 13 (6) ◽

pp. 434-438 ◽

Cited By ~ 29

Author(s):

E Bois ◽

J Feingold ◽

P Frenay ◽

M L Briard

Keyword(s):

Geographic Distribution ◽

Infantile Cystinosis

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

Journal of the American Academy of Dermatology ◽

10.1016/j.jaad.2011.08.010 ◽

2013 ◽

Vol 68 (4) ◽

pp. e111-e116 ◽

Cited By ~ 9

Author(s):

Christine Chiavérini ◽

Hee-Young Kang ◽

Laura Sillard ◽

Etienne Berard ◽

Patrick Niaudet ◽

...

Keyword(s):

Confocal Microscopy ◽

Reflectance Confocal Microscopy ◽

Infantile Cystinosis

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Diabetes mellitus in patients with infantile cystinosis after renal transplantation

Pediatric Nephrology ◽

10.1007/s004670050651 ◽

1999 ◽

Vol 13 (6) ◽

pp. 524-529 ◽

Cited By ~ 22

Author(s):

J.-J. Robert ◽

M.-J. Tête ◽

G. Guest ◽

M.-F. Gagnadoux ◽

P. Niaudet ◽

...

Keyword(s):

Diabetes Mellitus ◽

Renal Transplantation ◽

Infantile Cystinosis

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The influence of STAT4 rs7574865 (G/T) polymorphism on the risk of clinical and immunological phenotypes of systemic sclerosis in a Russian patient population: Results of a pilot study

Terapevticheskii arkhiv ◽

10.17116/terarkh201789520-25 ◽

2017 ◽

Vol 89 (5) ◽

pp. 20-25 ◽

Cited By ~ 2

Author(s):

M Yu Krylov ◽

L P Ananyeva ◽

О А Koneva ◽

M N Starovoytova ◽

O V Desinova ◽

...

Keyword(s):

Systemic Sclerosis ◽

Topoisomerase I ◽

Cardiac Injury ◽

Russian Population ◽

Signal Transducer ◽

Chain Reaction ◽

Diffuse Form ◽

Polymerase Chain ◽

Russian Patient

Aim. To examine the association of signal transducer and activator transcription 4 (STAT4) rs7574865 G/T polymorphism with a predisposition to systemic sclerosis (SSC) and associated clinical and autoimmune phenotypes in a Russian population. Subjects and methods. A total of 102 patients with SSC and 103 healthy individuals as controls were examined. STAT4 rs7574865 polymorphism was investigated by real-time polymerase chain reaction. Results. The carriers of the T allele showed a statistically significant association with SSC, a diffuse form (DF), the presence of interstitial lung disease (ILD), cardiac injury (CI), and seropositivity for anti-topoisomerase I antibodies (ATA). Conclusion. The findings results confirm the important role of STAT4 gene in the predisposition to SSC and its phenotypes, such as DF, ILD, CI, and ATA in the Russian population.

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