Abstract
Late symptoms of infantile cystinosis were evaluated in 19 patients aged 15–26 years who had a high graft survival following kidney transplantation. The end-stage cystinotic kidney was responsible for renal hypertension in 5 patients following grafts. Photophobia did not increase in relation to age, but 3 patients became blind and 1 lost the sight in one eye at 25 years of age. Two patients developed clinical symptoms of hypothyroidism, and 15 other patients had a compensated hypothyroidism. Four patients developed permanent insulin-dependent diabetes and 2 developed transient insulin-dependent diabetes after transplantation. The oral glucose tolerance test was abnormal in 11 of 14 patients on lowdose prednisone. Liver enlargement was noted in 10 cases, but only 3 patients developed clinical symptoms of portal hypertension. Symptoms of hypersplenism were observed in 6 cases leading to splenectomy. Repeat gross epistaxis was observed in 7 of the patients when on dialysis and persisted after transplantation in 1 patient, who died from nasal bleeding. A particular encephalopathy developed in 2 patients at the ages of 17 and 24, characterized by speech difficulties, pyramidal symptoms and cranial nerve deficit; one died at the age of 21. The mean adult height of these patients was 136.5 cm in males and 124 cm in females, and their psychosocial adjustment was related to the extra-renal complications of cystinosis rather than to the renal status.
Similar content being viewed by others
References
Broyer M, Guillot M, Gubler MC, Habib R (1981) Infantile cystinosis: a reappraisal of early and late symptoms. In: Grunfeld JP, Maxwell MH (eds) Advances in nephrology, vol 10, Year Book Medical Publisher, Chicago, pp 137–166
Broyer M, Gagnadoux MF, Guest G, Beurton D, Niaudet P, Habib R, Busson M (1986) Kidney transplantation in children. Study of 383 kidney grafts performed in Enfants Malades Hospital from 1973 to 1984. In: Grunfeld JP, Maxwell MH (eds) Advances in Nephrology vol 14, Year Book Medical Publisher, Chicago pp 307–333
Leroy D, Dechaux M, Guest G, Broyer M, Sachs C (1985) Extracellular volume and blood pressure in 82 haemodialysed children. EDTA-ERA proceedings vol. 22, Pitman Medical, Bath, p 847–850
Dufier JL, Dhermy P, Gubler MC, Gagnadoux MF, Broyer M (1987) Ocular changes in long term evolution of infantile cystinosis. Ophthalmic Paediatr Genet 8: (in press)
Cochat P, Drachman R, Gagnadoux MF, Pariente D, Broyer M (1986) Cerebral atrophy and nephropathic cystinosis. Arch Dis Child 61: 401–403
Malekzadeh MH, Neustein HB, Schneider JA, Pennisi AJ, Ettenger RB, Uittenbogaart EH, Kogut MD, Fine RN (1977) Cadaver Renal Transplantation in children with cystinosis. Am J Med 63: 525–533
West JC, Gocdman SI, Schroter GP, Blostein PA, Hambridge KM, Weil R (1977) Pediatric kidney transplantation for cystinosis. J Pediatr Surg 12: 651–655
Langlois RP, O'Regan S, Pelletier M, Robitaille P (1981) Kidney transplantation in uremic children with cystinosis. Nephron 28: 273–275
Broyer M, Donckerwolcke R, Brunner F, Brynger H, Jacobs C, Kramer P, Selwood NH, Wing AJ, Blake PH (1981) Combined report on regular dialysis and transplantation of children in Europe 1980. In: Proceedings EDTA vol 18. Pitman Medical, Bath, pp 60–87
Rizzoni G, Broyer M, Brunner F, Brynger H, Challah S, Kramer P, Oules R, Selwood NH, Wing AJ, Balas EA (1984) Combined report on regular dialysis and translantation of children in Europe XIII 1983. In: Proceedings EDTA, vol 21. Pitman Medical Publications, Montreal pp 69–95
Pintos Morell G, Niaudet P, Jean G, Descamps Latscha B (1985) Altered oxidative metabolism mobility and adherence in phagocytic cells from cystinotic children. Pediatr Res 19: 1318–1321
Broyer M, Guest G, Gagnadoux MF, Beurton D (1987) Hypertension following renal transplantation in children. Pediatr Nephrol 1: 16–21
Kaiser Kupfer M, Caruso R, Minkler D, Gahl W (1986) Long term ocular manifestations in nephropathic cystinosis. Arch Ophthalmol 104: 706–711
Lucky AW, Howley PM, Megyesi PM, Spielberg SP, Schulman JD (1977) Endocrine studies in cystinosis: compensated primary hypothyroidism. J Pediatr 91: 204–210
Brodehl J, Ehrich JHH, Krohn HP, Offner G, Bryd D (1984) Kidney transplantation in nephrotic cystinosis. In: Brodehl J, Ehrich JHH (eds) Paediatric nephrology. Springer, Berlin, Heidelberg, New York, pp 172–178
Bercu BB, Orloff S, Schulman JD (1980) Pituitary resistance to thyroid hormone in cystinosis. J Clin Endocrinol Metab 51: 1262–1268
Bakchine H, Niaudet P, Gagnadoux MF, Broyer M, Czernichow P (1984) Diabète induit par les corticoides chez six enfants après transplantation rénale. Arch Fr Pédiatr 41: 261–264
Milner RDG, Wirdnam PK (1982) The pancreatic B cell fraction in children with errors of amino acid metabolism. Pediatr Res: 213–216
Gahl WA, Schneider JA, Thoene JG, Chesney R (1986) Course of nephropathie cystinosis after age 10 years. J Pediatr 109: 605–608
Ehrich JHH, Stoeppler L, Offner G, Brodehl J (1979) Evidence for cerebral involvement in nephropathic cystinosis. Neuropaediatrie 10: 128–137
Ross DL, Strife F, Towbin R, Bove KE (1982) Non absorptive hydrocephalus associated with nephropathic cystinosis. Neurology 32: 1330–1334
Levine S, Paparo G (1982) Brain lesions in a case of cystinosis. Acta neuropathol 57: 217–220
Wolff G, Ehrich JHH, Offner G, Brodehl J (1982) Psychosocial and intellectual development in 12 patients with infantile nephropathic cystinosis. Acta Paediatr Scand 71: 1007–1011
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Broyer, M., Tete, MJ. & Gubler, M.C. Late symptoms in infantile cystinosis. Pediatr Nephrol 1, 519–524 (1987). https://doi.org/10.1007/BF00849263
Issue Date:
DOI: https://doi.org/10.1007/BF00849263