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Need Your Assistance In My Sister Who Is A Carrier Of OCRL Heterozygous Child Is Suffering From Dent Disease
Question: my sister is a carrier of OCRL heterozygous,x linked, and her child is suffering from dent disease. need your assistance in this.
Brief Answer:
Dent disease is associated with progressive renal dysfunction.
Detailed Answer:
Hello sir,
Dent disease is a rare X-linked renal tubulopathy due to CLCN5 and OCRL (DD2) mutations. OCRL mutations also cause Lowe syndrome (LS) involving the eyes, brain and kidney. DD2 is frequently described as a mild form of LS because some patients may present with extra-renal symptoms. In addition, OCRL mutated males may present with growth defects and bone abnormalities.
Medications known as thiazide diuretics may be used to treat individuals with Dent disease to prevent the recurrence of kidney stones and to lower levels of calcium in the urine.
The vital prognosis is good in the majority of patients. Progression to end-stage renal failure occurs between the 3rd and 5th decades of life in 30-80% of affected males.
Hope i have answered your question. Please let me know if you need any further assistance. Thank you.
Take care
Dent disease is associated with progressive renal dysfunction.
Detailed Answer:
Hello sir,
Dent disease is a rare X-linked renal tubulopathy due to CLCN5 and OCRL (DD2) mutations. OCRL mutations also cause Lowe syndrome (LS) involving the eyes, brain and kidney. DD2 is frequently described as a mild form of LS because some patients may present with extra-renal symptoms. In addition, OCRL mutated males may present with growth defects and bone abnormalities.
Medications known as thiazide diuretics may be used to treat individuals with Dent disease to prevent the recurrence of kidney stones and to lower levels of calcium in the urine.
The vital prognosis is good in the majority of patients. Progression to end-stage renal failure occurs between the 3rd and 5th decades of life in 30-80% of affected males.
Hope i have answered your question. Please let me know if you need any further assistance. Thank you.
Take care
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Above answer was peer-reviewed by :
Dr. Vaishalee Punj
Answered by
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