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.

• Keywords
• Autosomal dominant, Chronic kidney disease, HNF1β, Inherited, Mucin-1, Pediatric, Renin, Uromodulin,
• MeSH
• Renal Insufficiency, Chronic * MeSH
• Child MeSH
• Gout * MeSH
• Adult MeSH
• Humans MeSH
• Adolescent MeSH
• Mutation MeSH
• Polycystic Kidney Diseases * MeSH
• Uromodulin genetics   MeSH
• Check Tag
• Child MeSH
• Adult MeSH
• Humans MeSH
• Adolescent MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Review MeSH
• Research Support, N.I.H., Extramural MeSH
• Research Support, U.S. Gov't, Non-P.H.S. MeSH
• Names of Substances
• 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, Genetic genetics   MeSH
• Child MeSH
• Gout complications   genetics   metabolism   urine   MeSH
• Genes, Dominant genetics   MeSH
• Adult MeSH
• Genetic Heterogeneity * MeSH
• Haplotypes genetics   MeSH
• Thyroid Hormones * MeSH
• Uric Acid blood   metabolism   MeSH
• Middle Aged MeSH
• Humans MeSH
• Chromosomes, Human, Pair 16 genetics   MeSH
• Lod Score MeSH
• Chromosome Mapping MeSH
• Membrane Proteins genetics   MeSH
• Adolescent MeSH
• Mucoproteins genetics   MeSH
• Penetrance MeSH
• Renal Insufficiency complications   genetics   metabolism   urine   MeSH
• Pedigree MeSH
• Carrier Proteins genetics   MeSH
• Uromodulin MeSH
• Thyroid Hormone-Binding Proteins MeSH
• Age of Onset MeSH
• Check Tag
• Child MeSH
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Adolescent MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Research Support, U.S. Gov't, P.H.S. MeSH
• Geographicals
• Czech Republic MeSH
• Names of Substances
• Thyroid Hormones * MeSH
• Uric Acid MeSH
• Membrane Proteins MeSH
• Mucoproteins MeSH
• Carrier Proteins MeSH
• UMOD protein, human MeSH Browser
• Uromodulin MeSH