FANCONI RENOTUBULAR SYNDROME 1; FRTS1

Question 1

What is  FANCONI RENOTUBULAR SYNDROME 1; FRTS1?

Accepted Answer

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

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Fanconi-Syndrom, primäres

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 134600

Question 4

Which enzymes are involved?

Accepted Answer

impaired renal tubular transport

Disease	FANCONI RENOTUBULAR SYNDROME 1; FRTS1
Synonym	RENAL FANCONI SYNDROME; RFS; LUDER-SHELDON SYNDROME
OMIM	134600 OMIM = Online Mendelian Inheritance of Men
Orphanet	3337
Gene locus	15q15.3 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Fanconi renotubular syndrome
ICD	E72.0
Summary	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
Laboratory findings	Parathyroid hormone (PTH) inc (serum) D-Glucose inc (urine) pH dec (blood) pH dec (urine) Phosphate inc (urine) Phosphate dec (serum) Potassium dec (serum) Potassium inc (urine)
Symptoms	renal failure, acute/chronic Amino acids, urine dehydration Fanconi syndrome glucosuria growth retardation, poor growth lactic acidosis metabolic acidosis muscle weakness onset, infancy osteomalacia polydipsia (increased drinking) polyuria rickets tubulopathy