FANCONI SYNDROME, ICHTHYOSIS, DYSMORPHISM, JAUNDICE AND DIARRHEA - A NEW SYNDROME

被引：29

作者：

DEAL, JE

BARRATT, TM

DILLON, MJ

机构：

[1] Department of Paediatric Nephrology, Institute of Child Health, Hospital for Sick Children, London, Great Ormond Street

来源：

PEDIATRIC NEPHROLOGY | 1990年 / 4卷 / 04期

关键词：

Diarrhoea; Dysmorphism; Fanconi syndrome; Grey platelet syndrome; Ichthyosis; Jaundice;

D O I：

10.1007/BF00862505

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We describe six infants, from consanguineous marriages, with a new syndrome comprising the Fanconi syndrome, ichthyosis, musculoskeletal abnormalities, jaundice and diarrhoea. In addition two of the infants were found to have abnormal platelet morphology - the grey platelet syndrome. No evidence of a recognised metabolic disorder was found in any of the six infants, nor did they appear to be typical of any previously described syndromes. Their progress was poor: they required high fluid and bicarbonate intakes and all died by the age of 6 months of dehydration, acidosis and sepsis. © 1990 IPNA.

引用

页码：308 / 313

页数：6

共 16 条

[1]

Bergeron M., Gougoux A., The renal Fanconi syndrome, The metabolic basis of inherited disease, pp. 2569-2580, (1989)

[2]

Passwell J.H., Zipperkowski L., Katznelson D., Szeinberg A., Crispin M., Pollak S., Goodman R., Bat-Miriam M., Cohen B.E., A syndrome characterized by congenital ichthyosis with atrophy, mental retardation, dwarfism and generalised aminoaciduria, J Pediatr, 82, pp. 466-471, (1973)

[3]

Lutz-Richner A.R., Landolt R.F., Familiäre Gallengangmissbildungen mit tubularer Niereninsuffizienz, Helv Paediatr Acta, 28, pp. 1-12, (1973)

[4]

Van Biervliet J.P.G.M., Bruinvis L., Ketting D., De Bree P.K., Van der Heiden C., Wadman S.K., Hereditary mitochondrial myopathy with lactic acidemia, a de Toni-Fanconi-Debre syndrome and a defective respiratory chain in voluntary striated muscles, Pediatr Res, 11, pp. 1088-1093, (1977)

[5]

Roth K.S., Foreman J.W., Segal S., The Fanconi syndrome and mechanisms of tubular transport dysfunction, Kidney Int, 20, pp. 705-716, (1981)

[6]

Levy-Toledano S., Caen J.P., Breton-Gorius J., Rendu F., Cywiner-Golenzer C., Dupuy E., Legrand Y., Maclouf J., Gray-platelet syndrome—α-granule deficiency. Its influence on platelet function, J Lab Clin Med, 98, pp. 831-848, (1981)

[7]

Wilkinson R.D., Curtis G.H., Hawk W.A., Netherton's disease, Arch Dermatol, 89, pp. 46-54, (1964)

[8]

Witkop C.J., Henry F.V., Sjögren-Larsson syndrome and histidinaemia: hereditary biochemical diseases with defects of speech and oral functions, J Speech Hear Disord, 28, pp. 109-123, (1963)

[9]

Passwell J.H., Goodman R.M., Ziprkowski M., Cohen B.E., Congenital ichthyosis, mental retardation, dwarfism and renal impairment: a new syndrome, Clin Genet, 8, pp. 59-65, (1975)

[10]

Rayner A., Lampert R.P., Rennert O.M., Familial ichthyosis, dwarfism, mental retardation and renal disease, J Pediatr, 92, pp. 766-768, (1978)

← 1 2 →