ADPKD

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...

Fig. 35. Bone scan image with MDP in the same patient as in Fig. 34. A patchy lesion was observed. However, it was unclear whether this finding suggested ALPE or ADPKD...

This patient, who had ADPKD, developed ALPE after a sprint. On October 1,1995, he participated in two 100-m races at an athletics meeting in the morning. After a few hours, severe loin pain occurred, and he attended our department the following morning. There were no other abnormal findings, and his blood pressure, pulse, and serum creatinine values were 120/66 mmHg, 64/min, and 1.6mg/dl (serum creatinine level before onset 0.9mg/dl), respectively. On October 2, delayed CT 4 and 24 h after the administration of contrast medium showed patchy lesions (Fig. 37). On October 14, his serum creatinine level returned to 1.1 mg/dl, and CT 4h after the administration of contrast medium showed no 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]. 

Watanabe M, Ishikawa I, Saigan T, Kimura S, Sakamoto K, Yamaya H, Nakamura M, Sakamoto S, Asaka M, Tomosugi N, Yuri T, Nakazawa T, Saito Y (1997) Exercise-induced acute renal failure with severe loin pain in two ADPKD patients (Japanese abstract). Nippon Jinzo Gakkai Shi (Jpn J Nephrol) 39 95... 

In a retrospective case control study, however, examining both patients with inflammatory (IgA glomerulonephritis) and non-inflammatory (ADPKD) primary renal disease, Orth et al. [38] found an increased odds ratio of progression to end stage renal disease in patients with 5-15 pack years [odds ratio 3.5 (1.3-9.6)] and in patients with > 15 pack years [5.8 (2.0-17.0 p < 0.001)]. Interestingly the increased odds ratio was found only in patients who were not on ACE inhibitors (Table 1). 

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

ADPKD families haye a strong family history of intracranial artery aneurysm rupture. Hypertension is an early and frequent manifestation and gross hematuria is a common presenting symptom. 

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. 

Early manifesting cases of ADPKD may mimic the autosomal recessive form (ARPKD) that is usually an infantile disease and an important cause of renal- and liver-related morbidity and mortality in children. Most cases manifest peri-/neonatally with a high mortality rate in the first month of life while the clinical spectrum of surviving patients is much more variable (Fig. 4.5a). 

Elberg G, Guruswamy S, Logan CJ, Chen L, Turman MA. 2008. Plasticity of epithehal cells derived from human normal and ADPKD kidneys in primary cultures. Cell Tissue Res 331(2) 495-508. 

Ho TA, Decleire P-Y, Lafontaine J-J, Pirson Y. Night blindness in a haemodialysed ADPKD patient receiving octreotide. Clinical Kidney Journal 2012 5(5) 474-5. 

Another important question which is often forwarded to the medical geneticist is whether the identification of a mutation can predict the individual clinical course. There are diseases where a rough correlation between the type or localization of a mutation and the clinical phenotype exists, often, however, an individual prediction is impossible. A recently described example is again ADPKD with an unusual early manifestation in a child where all family members, including those with a mild onset in adulthood, share the same mutation. It is still unknown which other genetic or non genetic factors may influence the severity of the disease. 

While the autosomal dominantly inherited types (ADPKD) (OMIM 601313,173910) belong to the most common inherited diseases at all, the recessive type (ARPKD) (OMIM 26320) is mainly important among pediatric patients. Although ADPKD is usually a late onset disease with clinical signs in adulthood, and... 

Autosomal Dominant Polycystic Kidney Disease (ADPKD) 195... 

With an incidence of 1 400 to 1 1,000 life births, ADPKD (infantile polycystic kidney disease) represents one of the most common inherited diseases. The defect is located on the short arm of... 

Clinically, ADPKD usually manifests with loin pain, hematuria, urinary tract infection, nephroli-thiasis,hypertension and chronic renal insufficiency. For evaluation of theses symptoms, various imaging modalities depending on the individual, unspecific symptoms, from US and/or IVU to CT and MRI, are used. Chroiuc renal insufficiency usually develops gradually after the age of 30 years earlier severe disease is rare (Worthington et al. 1988). 

Manifestation of congenital (poly-)cystic kidney disease (particularly ADPKD)... 

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