Literature DB >> 12554913

Infantile cystinosis.

M Mirdehghan1, A Ahmadzadeh, M Bana-Behbahani, Ismail Motlagh, Bashir Chomali.   

Abstract

Ten patients of nephropathic cystinosis were admitted during the period 1995-2000. Their mean age was 12 months. The signs of failure to thrive and advanced rickets were seen in all patients. Other features included polyuria, polydipsia, pathologic fractures and deafness. Laboratory findings included glucosuria, hyposthenuria, hypocalcemia, proteinuria and azotemia. Therapy with phosphocysteamine showed marked clinical improvement.

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Year:  2003        PMID: 12554913

Source DB:  PubMed          Journal:  Indian Pediatr        ISSN: 0019-6061            Impact factor:   1.411


  4 in total

1.  Nephropathic Cystinosis: First reported case in Oman.

Authors:  Dana Al-Nabhani; Mohammed El-Naggari; Rana Al-Sinawi; Alexander P Chacko; Anuradha Ganesh; Ibtisam El Nour
Journal:  Sultan Qaboos Univ Med J       Date:  2011-10-25

Review 2.  The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives.

Authors:  Stephanie Cherqui; Pierre J Courtoy
Journal:  Nat Rev Nephrol       Date:  2016-12-19       Impact factor: 28.314

3.  Atypical manifestations of infantile-onset nephropathic cystinosis: a diagnostic challenge.

Authors:  Bobbity Deepthi; Sriram Krishnamurthy; Pediredla Karunakar; Gowrishankar Barathidasan; Thiagarajan Narayanasamy Rajavelu
Journal:  CEN Case Rep       Date:  2022-01-20

4.  Worldwide view of nephropathic cystinosis: results from a survey from 30 countries.

Authors:  Aurélia Bertholet-Thomas; Julien Berthiller; Velibor Tasic; Behrouz Kassai; Hasan Otukesh; Marcella Greco; Jochen Ehrich; Rejane de Paula Bernardes; Georges Deschênes; Sally-Ann Hulton; Michel Fischbach; Kenza Soulami; Bassam Saeed; Ehsan Valavi; Carlos Jose Cobenas; Bülent Hacihamdioglu; Gabrielle Weiler; Pierre Cochat; Justine Bacchetta
Journal:  BMC Nephrol       Date:  2017-07-03       Impact factor: 2.388

  4 in total

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