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Pediatrics General 8b42e1df

A male child with Fanconi syndrome with nephrocalcinosis has a variant of dent disease. All are true except :

A
Hypercalciuria
B
Proteinuria
C
Similar presentation in father
D
Rickets
High-Yield Explanation
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.

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