Dent’s disease is characterized by all except?
**Core Concept**
Dent's disease is a rare X-linked recessive disorder characterized by proximal tubule dysfunction in the kidneys, leading to low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, and progressive renal failure. It is caused by mutations in the CLCN5 gene, which encodes a chloride/proton antiporter protein involved in endosomal acidification and protein degradation.
**Why the Correct Answer is Right**
Dent's disease is indeed characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, and progressive renal failure. The CLCN5 gene mutation affects the function of proximal tubule cells, leading to impaired protein reabsorption and increased urinary excretion of low molecular weight proteins, such as albumin and transferrin. Hypercalciuria occurs due to impaired calcium reabsorption in the proximal tubules, while nephrocalcinosis is a result of calcium phosphate crystal deposition in the renal parenchyma.
**Why Each Wrong Option is Incorrect**
**Option A:** Not a characteristic of Dent's disease.
Dent's disease is not typically associated with hematuria, which is more commonly seen in other renal disorders such as Alport syndrome or thin basement membrane disease.
**Option B:** Not a characteristic of Dent's disease.
While some patients with Dent's disease may develop kidney stones, it is not a universal feature of the disease.
**Option C:** Not a characteristic of Dent's disease.
Dent's disease is not typically associated with hypertension, which is more commonly seen in other renal disorders such as renovascular disease or chronic kidney disease.
**Clinical Pearl / High-Yield Fact**
Dent's disease is an X-linked recessive disorder, meaning that it predominantly affects males, who have only one X chromosome. Females can be carriers of the disease, but they are usually asymptomatic or mildly affected.
**Correct Answer: D. Hematuria.**