Dent Syndrome
| Classification according to ICD-10 | |
|---|---|
| N25.8 | Other diseases resulting from damage to the tubular kidney function |
| N39.8 | Other specified diseases of the urinary system |
| ICD-10 online (WHO version 2019) | |
The Dent's disease , including Crohn Dent called, is a rare congenital disease of the kidney with dysfunction of the collection system (proximal tubules ) with kidney stones and increasing renal insufficiency .
Synonyms are:
- renal Fanconi syndrome with nephrocalcinosis and kidney stones
- X-linked recessive nephrolithiasis
- low molecular weight proteinuria with hypercalciuria and nephrocalcinosis
- Hypocalciuric, hypophosphatemic, X-linked recessive rickets.
It was first described by Charles Enrique Dent and M. Friedman in 1964.
Epidemiology
The inheritance is X-linked - recessive , there is no information on frequency. The disease usually only occurs in males; Dent disease is less severe in females.
clinic
A typical indication of this disease is a dysfunction of the proximal tubules with proteinuria , hypercalciuria , nephrocalcinosis and increasing renal insufficiency. It can get a Fanconi syndrome develop. When complications can rickets and osteomalacia occur.
Types
- Type I with predominantly renal involvement
- Type II with additional changes outside of the kidneys such as intellectual impairment, muscle hypotension, and mild cataracts
root cause
The disease is based on mutations in the CLCN5 gene (Xp11.22; Dent disease type 1) and in the OCRL1 gene (Xq25; Dent disease type 2), which leads to a deficiency in proton chloride exchanger 5 . Other genes may also be involved.
Diagnosis
The combination of low molecular weight proteinuria, hypercalciuria and one or more of the following symptoms: nephrocalcinosis, kidney stones, hematuria, hypophosphataemia or renal insufficiency leads to the clinical diagnosis, the mutation detection serves as confirmation.
Differential diagnosis
The oculo-cerebro-renal syndrome Lowe and other causes of a dysfunction in the proximal tubule must be differentiated.
therapy
Since a causal treatment is not known, only hypercalciuria can be combated and nephrolithiasis and rickets avoided. Kidney dialysis is used in advanced renal insufficiency .
forecast
The prognosis is given as favorable. Terminal kidney failure occurs in 30–80% of affected men between the third and fifth decades of life.
literature
- Dent Syndrome. In: Online Mendelian Inheritance in Man . (English)
- M. Ludwig, E. Levtchenko, A. Bökenkamp: Clinical utility gene card for: Dent disease (Dent-1 and Dent-2). In: European journal of human genetics: EJHG. [electronic publication before printing] March 2014, ISSN 1476-5438 . doi : 10.1038 / ejhg.2014.33 . PMID 24619144 .
- VO Edvardsson, DS Goldfarb, JC Lieske, L. Beara-Lasic, F. Anglani, DS Milliner, R. Palsson: Hereditary causes of kidney stones and chronic kidney disease. In: Pediatric nephrology. Volume 28, Number 10, October 2013, pp. 1923-1942, ISSN 1432-198X . doi : 10.1007 / s00467-012-2329-z . PMID 23334384 . (Review).
- O. Devuyst, RV Thakker: Dent's disease. In: Orphanet Journal of Rare Diseases. Volume 5, 2010, p. 28, ISSN 1750-1172 . doi : 10.1186 / 1750-1172-5-28 . PMID 20946626 . PMC 2964617 (free full text). (Review).
Individual evidence
- ↑ a b c d e f g h Dent syndrome. In: Orphanet (Rare Disease Database).
- ^ CE Dent, M. Friedman: Hypercalcuric rickets associated with renal tubular damage. In: Archives of Disease in Childhood. Volume 39, June 1964, pp. 240-249, ISSN 0003-9888 . PMID 14169453 . PMC 2019188 (free full text).
