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Summary
FANCONI RENOTUBULAR SYNDROME 1 FRTS1
RENAL FANCONI SYNDROME RFS LUDER-SHELDON SYNDROME
134600
OMIM = Online Medalian Inheritance of Men
3337
15q15.3

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • kidney transplantation
  • phosphate, neutral
  • potassium
  • sodium bicarbonate
  • supportive/symptomatic therapy
  • vitamin D
not rare
autosomal recessive
autosomal dominant
the renal Fanconi syndrome consists of generalised dysfunction of the proximal tubulus and vitamin D resistent rickets, associated with inherited metabolic diseases (Cystinosis, Tyrosinemia I, Fructose intolerance, Galactosemia, Glycogen storage disease I, Wilson disease, Vitamin D dependent rickets, Lowe syndrome, disorders of the mitochondrial respiratory chain) and secondary to heavy metals ingestion, inflammation, immunological diseases, cytostatic therapy
symptoms
Amino acids, urine
dehydration
Fanconi syndrome
glucosuria
growth retardation, poor growth
lactic acidosis
metabolic acidosis
muscle weakness
onset, infancy
osteomalacia
polydipsia (increased drinking)
polyuria
renal failure, acute/chronic
rickets
tubulopathy
laboratory finding
pH7.207.307.357.45no unitblood
pH4.005.006.007.00no uniturineinfancy
Potassium 3.505.50nmol/lseruminfant
Parathyroid hormone (PTH) increasedserum
D-Glucose800.001800.00 mmol/mol creatinineurine
Phosphate 1.301.90mmol/lserumchild
Phosphate0.000.00 mmol/mol creatinineurine
Potassium0.000.00 mmol/mol creatinineurine
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Balasubramaniam S,Duley JA, Christodoulou JInborn errors of purine metabolism: clinical update and therapiesJ Inherit Metab Dis375669-6862014
Thomason MJet al.A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolismJ Public Health Med203331-3431998
Simonsen Het al.Neonatal screening in Denmark. status and future perspectivesUgeskr Laeger160405777-57821998
Thomason MJet al.A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolismJ Public Health Med203331-3431998
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991