Polycystic autosomal dominant

Adult polycystic kidney disease (APKD) is one of the most common autosomal dominant diseases, affecting about 1/1,000 whites. The key feature of this disease is the progressive accumulation of renal cysts, which ultimately culminate in kidney failure. APKD is responsible for approximately 10% of end-stage renal disease in North America. Patients may also have hypertension, cerebral aneurysms, liver cysts, and cardiac valvular defects. 

Watnick, T. and Germino, G. G. (1999). Molecular basis of autosomal dominant polycystic kidney disease. Semin. Nephrol. 19, 327-343. 

ADPKD Autosomal dominant polycystic kidney disease... 

This patient, who had autosomal dominant polycystic kidney disease (ADPKD), almost drowned and then developed ALPE. On July 20, 1990, he nearly drowned in the sea at 1500 hours, and was brought to our hospital by ambulance for dyspnea and severe loin pain at 1620 hours. On admission, metabolic acidosis was observed. His CRP, serum creatinine, CPK, amylase, and urinary protein levels were 1+, 1.5mg/dl, 116 U/l, 592IU/1 (derived from the salivary gland), and 2+, respectively. His body temperature was 37.7°C, and his blood pressure was 110/60 mmHg. His pulse and respiratory rate were 120/min and 22/min, respectively. Delayed CT 6h after the administration of contrast medium showed wedge-shaped contrast enhancement in the noncystic renal parenchyma (Fig. 34). On July 24, a bone scan with MDP revealed patchy lesions (Fig. 35). His serum creatinine level was 1.3 mg/dl, which had decreased to 1.0 mg/dl on July 27. The patient was then discharged. 

Fig. 34. Delayed CT 6h after the administration of contrast medium to an autosomal dominant polycystic kidney disease (ADPKD) patient with ALPE. Top. Wedge-shaped contrast enhancement can be seen in the noncystic renal parenchyma region at onset. Bottom. CT under the same conditions in the recovery phase did not show wedge-shaped contrast enhancement...

In 54 patients, a kidney biopsy was performed 13.2 8.9 days after onset (n = 32). In all patients, the findings suggested either acute tubular necrosis or its recovery phase. The underlying diseases included kidney diseases such as IgA nephropathy [138], minimal change nephrotic syndrome [139], autosomal dominant polycystic kidney disease (ADPKD) [140], and cystinuria [67]. 

Cowley et al. (1996) described the Han SRPD rat strain which develops autosomal dominant polycystic kidney disease with chronic renal failure that resembles human autosomal dominant polycystic kidney disease. 

Levine, E., Cook, L.T., Grantham, J.J. Liver cysts in autosomal-dominant polycystic kidney disease clinical and computed tomographic study. Amer. J. Roentgenol. 1985 145 229-233... 

Bolignano D, Coppolino G, Campo S, Alois C, Nicocia G, Frisina N, Buemi M. Neutrophil gelatinase-associated lipocalin in patients with autosomal-dominant polycystic kidney disease. Am J Nephrol 2007 27 373-378. 

Chapman AB, Johnson AM, Gabow PA, Schrier RW Overt proteinuria and microalbuminuria in autosomal dominant polycystic kidney disease.dAm SocNephrol 5 1349-1354,1994. 

ADPKD autosomal dominant polycystic kidney APhN acute phosphate nephropathy... 

Gabow PA. Autosomal dominant polycystic kidney disease— more than a renal disease. Am J Kidney Dis 1990 16 403-13. 

Kimberling WJ, Kumar S, Gabow PA, Kenyon JB, Connolly CJ, Somlo S. Autosomal dominant polycystic kidney disease Localization of the second gene to chromosome 4ql3-q23. Genomics 1993 18 467-72. 

Paterson AD, Pei Y. Is there a third gene for autosomal dominant polycystic Iddney disease Kidney Int 1998 54 1759-61. 

Gabow PA, Johnson AM, Kaehny WD, et al. Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease. Kidney Int 1992 41 1311-1319. 

Elevated levels of serum MMP-1, TIMP-1, and plasma levels of MMP-9 have been reported in patients with autosomal dominant polycystic kidney disease as compared to healthy controls (N6). 

Two types of polycystic liver disease (PLD) have been identified one is related to the autosomal dominant polycystic kidney disease (ADPKD) linked to PKD 1 or PKD 2, while the second form is an isolated form totally unlinked to PKD 1 or PKD 2. Patients with PLD will present liver involvement in approximately 45% of cases (Suchy 2003 Pirson et al. 1996). While ADPKD is usually a disease of adults, about l%-2% of patients display an early manifesting clinical course and may die perinatally. 

Various hereditary connective tissue disorders have been associated with formation of aneurysms, most likely as a result of the weakening of the vessel wall. Intracranial aneurysms may develop in 10%-15% of patients with polycystic kidney disease, an autosomal dominant disorder. Although Marfan syndrome was previously identified as a risk factor for aneurysms, a recent study did not find any significant relationship (Conway et al. 1999). Coarctation of the aorta, fibromuscular dysplasia and pheochromocytoma are associated with intracranial aneurysms, most likely because of the elevated blood pressure that occurs in these conditions. 

Torres VE, Chapman AB, Devuyst O, Gansevoort RT, Grantham JJ, Higashihara E, et al. Tolvaptan in patients with autosomal dominant polycystic kidney disease. N Engl J Med 2012 367(25) 2407-18. 

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