A rare genetic kidney disease called Dent disease causes excessive calcium and protein excretion in the urine, excessive calcium deposits in the kidneys that can cause kidney stones, and excessive calcium leakage that results in low calcium levels in the blood.
Causes
Dr. Charles Dent first noticed the symptoms of Dent Disease, which is an X-Linked recessive inherited condition caused by mutation(s) in the CLCN5 and OCRL1 genes, which are involved in the re-absorption of minerals and nutrients from the proximal (upper) segments of the basic filtration unit of the kidneys called nephrons.
Types:
Dent Type 1 disease (predominantly renal manifestation) is associated with a mutation in the CLCN5 gene in approximately 60% of patients, and Den Type 2 disease (extra renal manifestation) is associated with a mutation in the OCRL1 gene in 15% of patients.
Occurrence:
Due to its asymptomatic presentation and overlap with symptoms of related renal pathologies, Dent’s disease goes undiagnosed and only affects men because it is an X-linked genetic disorder. There are about 250 reported affected families.
The risk is equal for all races and ethnicities.
Prognosis:
The majority of patients have a good prognosis, and 30-80% of affected males progress to end-stage renal failure between the third and fifth decade of life.
Symptoms:
- Excessive thirst (Polydipsia)
- LMW (Low Molecular Weight) Proteinuria levels that are excessive
- With normal blood calcium levels, hypercalciuria—an increase in urine calcium—can cause renal stones.
- Phosphaturia – Phosphate in urine
- Glycosuria – Glucose in urine
- Impaired urinary acidification
- Rickets
- Bone softening is known as osteomalacia.
- Extrarenal symptoms like hypotonia, subclinical cataracts, and so on.
Diagnosis:
- One or more family members who present with the same symptoms during a clinical presentation
- urine sample analysis using chemicals
- Molecular genetic testing
- Biopsy of kidney tissue
Conventional Treatment:
- focuses on treating hypercalciuria and preventing the formation of stones while providing symptomatic relief.
- Thiazide diuretics are used to treat hypercalciuria, but they have also been linked to low blood potassium levels and low blood volume, known as hypokalemia and hypovolemia, respectively.
- Vitamin D supplements
Homeopathic Treatment:
Terebinth, Capsicum, Sarsaparilla, Cantheris.
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