[MIM 300 009, 300 554, 300 555, 308 990]

(X-linked nephrolithiasis, low molecular weight proteinuria and nephrocalcinosis)

Rare. X-linked autosomal recessive transmission. Heterogeneous group of genetic disorders of the renal proximal tubule, affecting  almost exclusively the boys; women carrying the gene have a more moderate pathology.

The proximal tubule dysfunction causes:

-         hypercalciuria with nephrolithiasis

-         low molecular weight proteinuria: leak of microglobulines among which:

• the carrier of the vitamin D protein → rickets

• the retinol-binding-protein → nocturnal hemeralopia

-         nephrocalcinosis

-        polyuria-polydipsia due to secondary diabetes insipidus

-         progressive renal insufficiency (terminal between 30 and 50 years of age in 80 % of patients)

-        short stature

There is often rachitism or osteomalacia with bone pain. The tubular dysfunction may be associated with Fanconi syndrome: aminoaciduria, glucosuria, kaliuria, uricosuria. Hypercholesterolemia is often associated.

There are two types:

-         type 1 [MIM 300 009]: especially renal manifestations; mutation of the CLCN5 gene (Xp11.21)

-         type 2: [MIM 300 555] renal disorders associated with hypotonia, mild intellectual disability and subclinical cataract; mutation of the OCRL1 gene (Xp25) (other mutations of this gene are associated with Lowe oculo-cerebro-renal syndrome)

Some patients have none of these mutations: other genes are probably involved.

Treatment: high citrate diet; sometimes thiazide diuretics to reduce hypercalciuria

Anesthetic implications: 

monitor renal function; check blood electrolytes

References : 

-         Devuyst O, Thakker RV. 
Dent’s disease. 
Orphanet J Rare Diseases 2010 ; 5 : 28(8 pages) 

-        Soares RB, Bhat N.
Dent disease type 1: a diagnostic dilemma and review.
Cureus 2022 ; 14(4): e23910. DOI 10.7759/cureus.23910

Updated: April 2022