Potter syndrome

Bilateral renal agenesis is part of Potter syndrome and is incompatible with extra-uterine life. At obstetrical US, no recognizable renal parenchyma is visible. At no time a bladder is demonstrated. Anamnios is the rule. 

To minimize clay dust inhalation, it is best to buy premixed clay. Potters should change clothes before leaving their work area. Fresh clay should be used to minimize bacteria and mold growth. To avoid median nerve damage and resulting carpal tunnel syndrome, the potter s wrist should be unflexed frequently. A face mask can be worn when clay dust is present. 

Soule S, Florkowski C, Potter H et al (2008) Intermittent severe, symptomatic hyponatrae-mia due to the nephrogenic syndrome of inappropriate antidiuresis. Ann Clin Biochem 45 520-523... 

Initially recorded with rare paraproteins (B23), mainly of the IgA class, this has also been associated with IgG and IgM. Usually the total serum cholesterol is raised, but in one case it has been within normal limits curiously it is subnormal in most patients with IgA-myelomatosis without xanthoma (S7). The xanthomata are typically of the soft eruptive variety and contain complexes of the paraprotein and /8-Iipo-protein. Beaumont (B8) has collected evidence suggesting that the paraproteins are antibodies to the 8-apoprotein. Occasionally excess complexes can result in viscosity syndrome (Section 7.5.6). If a lipid stain is used, the paraprotein band is positive. In such cases, regrettably. Potter has been unable to relate the antibody activity to phosphoryl-choline (P13). Cytotoxic treatment can reduce the serum levels of lipid and paraprotein. 

Russel WMS, Burch RL (1959) The principles of humane experimental technique. Methuen, London, reprinted by Universities Federation fm Animal Welfare, Potters Bar, UK (1992) Rusyniak DE, Sprague JE (2005) Toxin-induced hyperthermic syndromes. Med Clin N Am 89 1277-1296... 

After birth of a child with severe Potter phenotype due to bilateral agenesis or dysplasia in up to 10% unilateral agenesis or dysplasia can be found in one parent indicating a genetic basis. Empirical recurrence risks favour mostly multifactorial inheritance with a recurrence risk of about 5% after birth of a child with renal agenesis/dysplasia. In single pedigrees, autosomal dominant or X-linked mode of inheritance seems to be likely with incomplete penetrance and variable expressivity. Specific syndromes have to be ruled out (Table 3.2). 

Familial aggregation of hydronephrosis in families with ureteropelvic junction obstruction has been described in several studies. In many cases hydronephrosis can he regarded as manifestation of a spectrum including hydronephrosis - cortical renal cysts (Potter type IV) - hypoplastic/dysplastic or multicystic kidneys - renal agenesis, depending on the time of the interaction of a disruption (e.g. obstruction). Hydronephrosis can also be a part of more complex genetic syndromes (Table 3.4). 

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