Autosomal dominant tubulointerstitial kidney disease (ADTKD) refers to a group of disorders with a bland urinary sediment, slowly progressive chronic kidney disease (CKD), and autosomal dominant inheritance. Due to advances in genetic diagnosis, ADTKD is becoming increasingly recognized as a cause of CKD in both children and adults. ADTKD-REN presents in childhood with mild hypotension, CKD, hyperkalemia, acidosis, and anemia. ADTKD-UMOD is associated with gout and CKD that may present in adolescence and slowly progresses to kidney failure. HNF1β mutations often present in childhood with anatomic abnormalities such as multicystic or dysplastic kidneys, as well as CKD and a number of other extra-kidney manifestations. ADTKD-MUC1 is less common in childhood, and progressive CKD is its sole clinical manifestation, usually beginning in the late teenage years. This review describes the pathophysiology, genetics, clinical characteristics, diagnosis, and treatment of the different forms of ADTKD, with an emphasis on diagnosis. We also present data on kidney function in children with ADTKD from the Wake Forest Rare Inherited Kidney Disease Registry.

• Klíčová slova
• Autosomal dominant, Chronic kidney disease, HNF1β, Inherited, Mucin-1, Pediatric, Renin, Uromodulin,
• MeSH
• chronická renální insuficience * MeSH
• dítě MeSH
• dna (nemoc) * MeSH
• dospělí MeSH
• lidé MeSH
• mladiství MeSH
• mutace MeSH
• polycystická choroba ledvin * MeSH
• uromodulin genetika   MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• přehledy MeSH
• Research Support, N.I.H., Extramural MeSH
• Research Support, U.S. Gov't, Non-P.H.S. MeSH
• Názvy látek
• uromodulin MeSH

Familial juvenile hyperuricemic nephropathy (FJHN), is an autosomal dominant renal disease characterized by juvenile onset of hyperuricemia, gouty arthritis, and progressive renal failure at an early age. Using a genomewide linkage analysis in three Czech affected families, we have identified, on chromosome 16p11.2, a locus for FJHN and have found evidence for genetic heterogeneity and reduced penetrance of the disease. The maximum two-point LOD score calculated with allowance for heterogeneity (HLOD) was 4.70, obtained at recombination fraction 0, with marker D16S3036; multipoint linkage analysis yielded a maximum HLOD score of 4.76 at the same location. Haplotype analysis defined a 10-cM candidate region between flanking markers D16S501 and D16S3113, exhibiting crossover events with the disease locus. The candidate interval contains several genes expressed in the kidney, two of which-uromodulin and NADP-regulated thyroid-hormone-binding protein-represent promising candidates for further analysis.

• MeSH
• crossing over (genetika) genetika   MeSH
• dítě MeSH
• dna (nemoc) komplikace   genetika   metabolismus   moč   MeSH
• dominantní geny genetika   MeSH
• dospělí MeSH
• genetická heterogenita * MeSH
• haplotypy genetika   MeSH
• hormony štítné žlázy * MeSH
• kyselina močová krev   metabolismus   MeSH
• lidé středního věku MeSH
• lidé MeSH
• lidské chromozomy, pár 16 genetika   MeSH
• Lod skóre MeSH
• mapování chromozomů MeSH
• membránové proteiny genetika   MeSH
• mladiství MeSH
• mukoproteiny genetika   MeSH
• penetrance MeSH
• renální insuficience komplikace   genetika   metabolismus   moč   MeSH
• rodokmen MeSH
• transportní proteiny genetika   MeSH
• uromodulin MeSH
• vazebné proteiny hormonů štítné žlázy MeSH
• věk při počátku nemoci MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Research Support, U.S. Gov't, P.H.S. MeSH
• Geografické názvy
• Česká republika MeSH
• Názvy látek
• hormony štítné žlázy * MeSH
• kyselina močová MeSH
• membránové proteiny MeSH
• mukoproteiny MeSH
• transportní proteiny MeSH
• UMOD protein, human MeSH Prohlížeč
• uromodulin MeSH