IllnessMedullary-cystic kidney disease [ADTKD], differential diagnosis

NGS +

[Sanger]

Kidney cysts can be clinically insignificant but can also lead to early end-stage renal failure. The cystic kidney is a disease that is diagnosed on the basis of kidney size and cyst localisation, and possibly by extra-renal symptoms. Cystic kidney disease (CKD) can also be associated with extra-renal symptoms in multisystemic diseases, such as tuberous sclerosis and von Hippel-Lindau syndrome. Causal pathogenetic differentiation must also be made between glomerulocystic and medullary forms of CKD and juvenile nephronophthisis. CKDs therefore have very different causes, hereditary, systemic or rarely acquired and can develop in children and adults. Inherited CKDs are often autosomal dominant (ADPKD) or more rarely autosomal recessive CKDs (ARPKD), each with variable expressivity and penetrance. In over 90% of familial CDKs, the genetic causes can currently be clarified by molecular genetics. However, an inconspicuous genetic finding does not mean that the clinically suspected diagnosis of CKD can be excluded.

References: https://www.ncbi.nlm.nih.gov/books/NBK1246/https://www.ncbi.nlm.nih.gov/books/NBK1326/https://www.ncbi.nlm.nih.gov/books/NBK1356/

https://www.ncbi.nlm.nih.gov/books/NBK368475/https://www.ncbi.nlm.nih.gov/books/NBK153723/

• Alias: AD medullary cystic kidney disease
• Alias: AD tubulointerstitial kidney disease [ADTKD], NPH-MCKD complex
• Alias: Medullary cystic kidney disease, MCKD
• Allelic: Cerebral creatine deficiency syndrome 3 (GATM)
• Allelic: Diabetes mellitus, noninsulin-dependent (HNF1B)
• Allelic: Glomerulocystic kidney disease with hyperuricemia + isosthenuria (UMOD)
• Allelic: Hyperproreninemia (REN)
• Allelic: Hyperuricemic nephropathy, familial juvenile 1 (UMOD)
• Allelic: Hyperuricemic nephropathy, familial juvenile 2 (REN)
• Allelic: Renal cell carcinoma (HNF1B)
• Fanconi renotubular syndrome 1 (GATM)
• Fanconi renotubular syndrome 4 + maturity-onset diabetes of the young (HNF4A)
• Medullary cystic kidney disease 1 (MUC1)
• Medullary cystic kidney disease 2 (UMOD)
• Polycystic kidney disease 1 (PKD1)
• Polycystic kidney disease 2 (PKD2)
• Polycystic kidney disease 6 with/-out polycystic liver disease (DNAJB11)
• Renal cysts and diabetes syndrome (HNF1B)
• Renal tubular dysgenesis (REN)
• Tubulointerstitial kidney disease, AD, 1 (UMOD)
• Tubulointerstitial kidney disease, AD, 2 (MUC1)
• Tubulointerstitial kidney disease, AD, 3 (HNF1B)
• Tubulointerstitial kidney disease, AD, 4 (REN)
• Tubulointerstitial kidney disease, AD, 5 (SEC61A1)