IllnessPolycystic kidney disease, ADPKD; 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: Autosomal dominant polycystic kidney disea
• Alias: Autosomal dominante polyzystische Nierenerkrankung
• Alias: Familial cystic renal disease
• Alias: Nierenkrankheit, polyzystische, autosomal-dominante
• Alias: Polycystic kidney disease
• Alias: Polyzystische Nierenerkrankungen
• Alias: Renal cysts
• Allelic: Brain small vessel disease with/-out ocular anomalies (COL4A1)
• Allelic: Diabetes mellitus, noninsulin-dependent (HNF1B)
• Allelic: Dyskeratosis congenita, AR 4 (TERT)
• Allelic: Dyskeratosis congenita, AR 5 (RTEL1)
• Allelic: Erythrocytosis, familial, 2 (VHL)
• Allelic: Exudative vitreoretinopathy 4 (LRP5)
• Allelic: Focal cortical dysplasia, type II, somatic (TSC1)
• Allelic: Focal cortical dysplasia, type II, somatic (TSC2)
• Allelic: Hemangioblastoma, cerebellar, somatic (VHL)
• Allelic: Hemorrhage, intracerebral, susceptibility to (COL4A1)
• Allelic: Hyperostosis, endosteal (LRP5)
• Allelic: Hyperuricemic nephropathy, familial juvenile 1 (UMOD)
• Allelic: Leukemia, acute myeloid (TERT)
• Allelic: Lymphangioleiomyomatosis (TSC1)
• Allelic: Lymphangioleiomyomatosis, somatic (TSC2)
• Allelic: Melanoma, cutaneous malignant, 9 (TERT)
• Allelic: Microangiopathy + leukoencephalopathy, pontine, AD (COL4A1)
• Allelic: Osteopetrosis, AD 1 (LRP5)
• Allelic: Osteoporosis (LRP5)
• Allelic: Osteoporosis-pseudoglioma syndrome (LRP5)
• Allelic: Osteosclerosis (LRP5)
• Allelic: Pheochromocytoma (VHL)
• Allelic: Renal cell carcinoma (HNF1B)
• Allelic: Renal cell carcinoma, somatic (VHL)
• Allelic: Retinal arteries, tortuosity of (COL4A1)
• Allelic: Short-rib thoracic dysplasia 4 with/-out polydactyly (TTC21B)
• Allelic: van Buchem disease, type 2 (LRP5)
• Allelic: von Hippel-Lindau syndrome (VHL)
• Alagille syndrome 2 (NOTCH2)
• Angiopathy, hereditary, with nephropathy, aneurysms + muscle cramps (COL4A1)
• Anterior segment anomalies with/-out cataract (EYA1)
• Birt-Hogg-Dube syndrome (FLCN)
• Bone mineral density variability 1 (LRP5
• Branchiootic syndrome 1 (EYA1)
• Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
• Congenital disorder of glycosylation, type Ih (ALG8)
• Congenital disorder of glycosylation, type Il (ALG9)
• Dyskeratosis congenita, AD 2 (TERT)
• Dyskeratosis congenita, AD 4 (RTEL1)
• Focal cortical dysplasia, type II, somatic (TSC1)
• Gillessen-Kaesbach-Nishimura syndrome (ALG9)
• Glomerulocystic kidney disease with hyperuricemia + isosthenuria (UMOD)
• Hajdu-Cheney syndrome (NOTCH2)
• Medullary cystic kidney disease 1 (MUC1)
• Medullary cystic kidney disease 2 (UMOD)
• Microphthalmia, syndromic 6 (BMP4)
• Nephronophthisis 12 (TTC21B)
• Orofacial cleft 11 (BMP4)
• Otofaciocervical syndrome (EYA1)
• Pneumothorax, primary spontaneous (FLCN)
• Polycystic kidney disease 1 (PKD1)
• Polycystic kidney disease 2 (PKD2)
• Polycystic kidney disease 3 (GANAB)
• Polycystic kidney disease 6 with/-out polycystic liver disease (DNAJB11)
• Polycystic liver disease 1 (PRKCSH)
• Polycystic liver disease 2 (SEC23)
• Polycystic liver disease 3 with/-out kidney cysts (ALG8)
• Polycystic liver disease 4 with/-out kidney cysts (LRP5)
• Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
• Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
• Renal cysts + diabetes syndrome (HNF1B)
• Townes-Brocks branchiootorenal-like syndrome (SALL1)
• Townes-Brocks syndrome 1 (SALL1)
• Tuberous sclerosis-1 (TSC1)
• Tuberous sclerosis-2 (TSC2)
• Tubulointerstitial kidney disease, AD, 5 (SEC61A1)
• Vesicoureteral reflux 2 (ROBO2)