Table 1.
Diseases commonly associated with a cystic phenotype
| MIM Gene/locus number | Disease | Inheritance, genes | Incidence. Male; Female | Age at presentation | Renal features | Extra-renal features |
|---|---|---|---|---|---|---|
| Genetic disorders | ||||||
| *606702 | Autosomal recessive polycystic kidney disease | A.R. PKHD1 (6p21.1-p12) | 1 in 20,000 (gene frequency 1 in 70) M:F 1:1 | Neonatal, childhood | Abdominal masses, polyuria, polydipsia, UTIs, ESRD | Oligohydramnios if severe, hypertension, ascending cholangitis |
| *601313 | Autosomal dominant polycystic kidney disease | A.D. PKD1 (16p13.3-p13.12), PKD2 (4q21-q23) | 1 in 400-1 in 1,000 M:F 1:1 but renal phenotype may be more severe in males | Usually 20–40 years | Clinical findings in children rare. In adults, abdominal pain, UTIs, ESRD | Clinical findings in children rare. In adults, hypertension, sub-arachnoid hemorrhage |
| *607100 | Nephronophthisis | A.R. 13 causative genes NPHP1-13 | 1 in 50,000 M:F 1:1 | Three forms. Infancy, childhood, adolescence | Polyuria, polydipsia, enuresis, ESRD | Growth retardation, anemia, (visual loss, liver fibrosis, cerebellar ataxia if associated with another syndrome) |
| *243305 | ||||||
| *608002 | ||||||
| *607215 | ||||||
| *609237 | ||||||
| *610142 | ||||||
| *608539 | ||||||
| *610937 | ||||||
| *609799 | ||||||
| *609884 | ||||||
| *613524 | ||||||
| *612014 | ||||||
| *614377 | ||||||
| %174000, *191845 | Medullary cystic kidney disease | A.D. MCKD1, MCKD2/UMOD | Rare. M:F 1:1 | Early adulthood | Clinical findings in children rare. In adults-ESRD | Clinical findings in children rare, may develop gout. In adults, gout |
| *189907 | HNF1β-related diseases | HNF1β (17q12) | ? M:F 1:1 | Any age | Highly variable. Hyperechogenic kidneys, multicystic kidney disease, renal agenesis, renal hypoplasia, cystic dysplasia, or hyperuricemic tubulointerstitial nephropathy not associated with UMOD mutation [88] | Congenital anomalies of the urinary tract, pancreas atrophy, liver abnormalities, maturity-onset diabetes of the young type 5 and genital malformations |
| *608537 | Von Hippel–Lindau disease | A.D. VHL (3p25.3) | 1 in 36,000 M:F 1:1 | Childhood, adolescence or adulthood. Mean age 26 | Renal symptoms rare during childhood. Adults-renal cysts, renal cell carcinoma (RCC) | Clinical findings in children rare. In adults, central nervous system (CNS) hemangioblastomas, retinal hemangioblastomas, pheochromocytoma, pancreatic cysts |
| *605284 | Tuberous sclerosis complex | A.D. High rate of spontaneous mutations. TSC1 (9q34), TSC2 (16p13.3) | 1 in 1,000 M:F 1:1 but female morbidity and mortality rates higher | Childhood | Renal symptoms rare during childhood. Renal angiomyolipomas, renal cysts, ESRD | Numerous systemic findings. Facial angiofibromas, cardiac rhabdomyomas, lymphangioleiomyomatosis, retinal hamartomas |
| *191092 | ||||||
| Renal cysts in malformative syndromes | Varies according to syndrome (including Meckel–Gruber, Bardet-Biedl, Ehlers-Danlos, Trisomy 13, 18 and 21, and Zellweger syndromes) | |||||
| Non-genetic disorders-developmental | ||||||
| Medullary sponge kidney | Mutations in GDNF have been linked. May be part of other syndromes | 1 in 2,000–20,000 M:F 1:1 (but may be more severe in females) | 20–50 years but may present younger | Hematuria, UTI, calculi | ||
| Multicystic renal dysplasia | Usually sporadic but familial disease has occurred (PAX 2). Also associated with many syndromes | 1 in 4,000 M:F 2:1 | Usually detected prenatally or soon after birth | Abdominal mass, flank pain, UTI | Hypertension | |
| Non-genetic disorders-acquired | ||||||
| Acquired renal cystic disease | Acquired | 7–22 % of pre-dialysis patients. >90 % 10 years post-dialysis | Any age depending on age of development of ESRD | Flank pain, bleeding, RCC | ||
| Simple renal cysts | Acquired | Very common. Incidence increases with age. M:F 2:1 | Any age. Usually incidental finding | Clinical findings rare especially in children. In adults, pain, bleeding, infection | Clinical findings rare especially in children | |
| Multilocular renal cysts | Acquired | Rare | Any age but often early childhood | Often asymptomatic. Can present with abdominal mass, abdominal pain, or hematuria | Hypertension | |
| Hypokalemic renal cysts | Acquired | Any age | Usually cysts do not cause symptoms | |||
| Glomerulocystic kidney - Genetic and non-genetic forms | ||||||
| GCK in PKD | ADPKD | M:F 1:1. | Any age | As per primary disease | As per primary disease | |
| Hereditary GCKD | ADGCKD and HNF1β mutations | M:F 1:1 | Any age | Abdominal masses, renal insufficiency, flank pain, hematuria | Hypertension | |
| Syndromic GCK | As per syndrome | As per syndrome | Any age | As per syndromes, e.g., X-linked dominant oral-facial-digital syndrome type 1, tuberous sclerosis | ||
| Obstructive GCK | Any age | Associated with renal dysplasia. Urinary tract infections | ||||
| Sporadic GCK | May be a de novo mutation, ischemic, or drug-induced | Any age | Abdominal masses, renal insufficiency, flank pain, hematuria. Described post-hemolytic uremic syndrome [115] | Hypertension | ||
MIM Mendelian inheritance of man; AD autosomal dominant, AR autosomal recessive, RCC renal cell carcinoma