Dent disease

Dent disease is an X-linked recessive disorder of proximal tubule function, that is cause by mutations in one of the genes CLCN5 and OCRL1, Dent 1 and Dent 2 respectively. The disease is characterized clinically by low molecular weight proteinuria, nephrocalcinosis/nephrolithiasis, hypercalciuria, and progressive renal failure.

Epidemiology

Dent disease is a rare disorder with only a few hundert cases published worldwide. However is can be surmised that many cases remain undetected because simply treated as recurrent nephrolithiasis.[Error: Macro 'ref' doesn't exist]

Clinical Findings

Low-molecular weight proteinuria is present in almost all patients with Dent disease. It is frequent in obligate female carriers even. Also female carriers may show a disposition to kidney stone formation. Based on these observations Hopes criteria were developed. The include (1) low-molecular-weight (LMW) proteinuria; (2) hypercalciuria; and (3) at least one of the following: nephrocalcinosis, kidney stones, renal insufficiency, hypophosphatemia, or hematuria.[Error: Macro 'ref' doesn't exist]

The symptom frequencies is male patients:
99% low-molecular-weight proteinuria (alpha1- and beta2-Microglobulin, Retinol binding protein)
95% hypercalciuria
75% nephrocalcinosis
50% nephrolithiasis
30-80% end-stage renal failure in the 3rd-5th decade
rickets (vitamin D metabolism)
night blindness (retinol binding)
hematuria (kidney stones)

Symptom frequencies in female patients:

• 50-70% low-molecular-weight proteinuria (alpha1- and beta2-Microglobulin, Retinol binding protein)
• 5% nephrolithiasis
• 0,5% end-stage renal failure
• hematuria (kidney stones)

Management

In therapy, thiazide diuretics can be tried as they reduce hypercalciuria.

Systematic

Metabolic disturbances of proximal tubular function
	Cystinosis
	Dent disease
		CLCN5
		OCRL
	Fanconi renotubular syndrome
	Fanconi-Bickel syndrome
	Fructose intolerance
	Galactosemia
	Glycogen storage disease 1
	Hepatorenal tyrosinemia
	Lowe disease
	MELAS syndrome
	Wilson disease