A male child with Fanconi syndrome with nephrocalcinosis has a variant of dent disease. All are true except :
Correct Answer: Similar presentation in father
Description: Dent's disease :
Dent's disease, a familial proximal tubular syndrome, is an X-linked recessive disorder of proximal tubules characterized by :
Hypercalciuria and nephrocalcinosis and nephrolithiasis.
Low-molecular-weight proteinuria.
Metabolic bone disease/Rickets.
Progressive renal failure.
Marked inale predominance.
In addition to above features, other renal proximal tubular defect can cause:
(i) Fanconi syndrome (Aminoaciduria, proteinuria, phosphaturia).
(i) Glycosuria, uricosuria and kalliuresis.
(iii) Impaired urinary acidification.
Dent's disease occurs due to mutations that inactivate a voltage-gated chloride transporter, CLC-.5. In some cases, it is associated with mutations in the OCRL-1 gene that is also mutated in the oculocerebral syndrome of Lowe. Coming back to question.
Dent's disease is an X-linked renal tubular disorder.
X-linked disease cannot be transmitted from male to male i.e., from father to son.
Category:
Pediatrics
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