Naslov
A boy with Dent-2 disease

Autori
Vrljicak, Kristina ; Batinic, Danica ; Milosevic, Danko ; Nizic-Stancin, Ljiljana ; Ludwig, Michael

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
Meeting abstract / Danica Batinić. Danko Milošević - New York (NY) : Springer, 2011, 1463-1463

Skup
Pediatrics, Urology & Nephrology

Mjesto i datum
Dubrovnik, Hrvatska, 14.09.2011. - 17.09.2011

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Dent - 2; child

Sažetak
Objectives and study: Dent-2 disease is an X-linked tubulopathy associated with mutations in OCRL gene. It is characterized by low-molecular weight proteinuria, hypercalciuria, nephrolithiasis/nephrocalcinosis and progressive renal failure. This is a case report.Methods and results: Patient was admitted at the age of 8 months because of persistent proteinuria and hematuria after urinary tract infection. Hypercalciuria up to 8.29 mg/kg/day and proteinuria up to 2.46 g/dU were found. At the age of 17 months calciuria was 5.17 mg/kg/day so we started treatment with amiloride, hydrochlorthiazide and citrate and got a good therapeutic response in reducing calciuria. At last control (age 46 months) calciuria was 1.89 mg/kg/day. We will consider the introduction of ACE inhibitors. OCRL mutation in exon 4 (c.166_167 del TT p.L56D, fs X57) was detected. The mutation was previously published once by Shrimpton et al. Patient’s mother is a carrier of that mutation. Renal scintigraphy showed a symmetrical tubular damage. Renal biopsy revealed normal glomeruli and interstitium was only at two places permeated by abundant connective tissue. Creatinine, bicarbonate and serum electrolyte levels were normal. He had no glycosuria or aminoaciduria. Psychological testing at 3 years recorded appropriate mental development. Renal ultrasound, ophthalmologic and cardiologic examination remained normal till date.Conclusions: The diagnosis was established in a very young patient so it is possible that the other phenotypic features manifest later in life. Dent-2 patients may have some extra-renal symptoms of Lowe syndrome, such as peripheral cataracts, mental impairment, stunted growth or elevation of creatinine kinase/lactate dehydrogenase. Except shorter stature (5th centile for age), our patient has no prominent extra-renal symptoms. Renal biopsy did not reveal the changes that have been described by some authors.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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