Carrier
Females with one copy of the mutated gene.
In most cases, male children inherit the disorder from a carrier mother who has no symptoms or extremely mild symptoms of the disorder. When a mother is a known carrier of the CLCN5 or the OCRL1 mutation, there is a 50% chance of passing that mutation on to her children. Males who inherited a mutation will have the disorder; females who inherited the mutation will be carriers. Some females who inherited one of the mutations that cause Dent disease may develop mild manifestations of the disorder such as low-molecular-weight proteinuria and/or hypercalciuria. Kidney stones may be more common in female carriers, reported in 6 out of 14 Dent 1 mothers in one recent series.
Cataracts
Clouding of the lenses of the eyes
CLCN5
Gene mutation in Dent disease type 1
De Novo mutation
The mutation that causes the disorder; occurs randomly for no apparent reason
Dysuria
Painful urination
Gene
A unit of heredity that is transferred from a parent to offspring and is held to determine some characteristic of the offspring.
Gene Therapy
The transplantation of normal genes into cells in place of missing or defective ones in order to correct genetic disorders.
Hematuria
Blood in urine
Hypercalciuria
Elevated levels of calcium in the urine, one typical symptom of Dent
Hypotonia
Diminished muscle tone
Low molecular weight proteinuria
Tubular proteinuria is proteinuria (excessive protein in the urine) caused by renal tubular dysfunction. Proteins of low molecular weight are normally filtered at the glomerulus (a cluster of nerve endings, spores, or small blood vessels, in particular a cluster of capillaries around the end of a kidney tubule, where waste products are filtered from the blood) of the kidney and are then normally reabsorbed by the tubular cells, so that less than 150 mg per day should appear in the urine.
Nephrocalcinosis
Kidney calcifications
Nephrolithiasis
Kidney stones
Nephrologist
Specialists who assess and treat problems of the kidneys
OCLR1
Gene mutation in Dent disease type 2
Osteomalacia
Softening of the bones
Proteinuria
Elevated levels of proteins in the urine, one typical symptom of Dent
Renal failure
Kidneys stop functioning
Rickets
Has been reported in a minority of patients, and it is probably the result of excessive phosphaturia (the excessive discharge of phosphates in the urine.)
Urologist
Specialists who assess and treat problems of the urinary tract
X-linked Recessive
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males, because they have one X and one Y chromosome. Females with one copy of the mutated gene (XX) are carriers.
