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Autosomal Recessive Polycystic Kidney Disease: improvement of renal function

Bettina M. Bosch et al

Cistanche deserticola prevents kidney disease

A girl with severe neonatal polycystic kidney disease had a considerable rise in glomerular filtration rate over 3 years showing that caution is warranted with respect to prognosis.

We present the case of a 3-year-old Turkish girl with Autosomal Recessive Polycystic Kidney Disease (ARPKD). After a pregnancy without medical follow-up, the neonate presented with oliguria, grossly distended ab[1]domen, and severe pulmonary hypoplasia, necessitating artificial ventilation for 21 days. Ultrasonography showed enlarged kidneys (volume >85 ml, >97th percentile), and the typical sonographic features of ARPKD (cystic deformation, 'salt and pepper' image). The absence of kidney disease in the family (parents' kidneys ultrasonographically normal), was in line with the diagnosis of ARPKD (consanguinity denied by the parents). At the age of 1 month, serum creatinine was 2.0 mg/dl, and glomerular filtration rate (GFR) 11 ml/ min per 1.73m² (as estimated by the Schwartz formula; Fig. 1). Urinary output exceeded 2 ml/kg per h by the age of 4 weeks and remained normal. Hypertension was treated with nifedipine, propranolol, furosemide, and captopril. After discharge at the age of 4 months, the girl was readmitted almost monthly because of severe vomiting and diarrhea, causing failure to thrive and growth retardation in spite of percutaneous endoscopic gastrostomy (PEG) performed at the age of 14 months (Fig. 1). As conservative treatment could not control the failure to thrive, peritoneal dialysis was initiated at the age of 17 months (serum creatinine >3.0 mg/dl, GFR 16 ml/min per 1.73m²; Fig. 1). Weight gain was obtained after the start of renal replacement therapy (1 kg in 1 year). At the age of 29 months, the dialysis catheter was explanted because of persistent bacterial catheter infection and peritonitis. At the age of 30 months, GFR was 24 ml/min per 1.73m², 4 months later 31 ml/min per 1.73m² (Fig. 1). GFR remained stable for a 1-year period (28–31 ml/min per 1.73m² , serum creatinine 1.6– 1.9 mg/dl; Fig. 1). At the follow-up visits, the girl was in good clinical condition. She had a body growth along with the 3rd percentile (start of recombinant human growth hormone therapy at the age of 33 months; Fig. 1).

ARPKD (Autosomal Recessive Polycystic Kidney Disease) is a hereditary cystic disease with an estimated incidence of 1:10.000 to 1:55.000, always involving both kidneys and the liver to a variable degree [6]. The clinical course can be very severe and some of these patients die in utero or after birth. However, for children who survive the neonatal period, a reasonable clinical outcome with a fair prognosis regarding survival and kidney function is observed [2, 4, 6]. The typical clinical features of ARPKD (Autosomal Recessive Polycystic Kidney Disease) are chronic renal failure, hyper[1]tension, growth retardation, urinary tract infections, and portal hypertension [2, 4, 6]. The diagnosis of ARPKD (Autosomal Recessive Polycystic Kidney Disease) is based on ultrasonographic findings, family history, and signs of hepatic fibrosis [1, 3]. However, liver pathology is not mandatory for a diagnosis of ARPKD (Autosomal Recessive Polycystic Kidney Disease) [6]. The polycystic kidney and hepatic disease 1 (PKHD1) gene maps to chromosome 6p21.1-p12 and encodes for a protein named polyductin [3, 5]. Mutations of PKHD1 seem to be responsible for the typical severe form of ARPKD (Autosomal Recessive Polycystic Kidney Disease) [3].

In the present case, the child initially showed severe renal and pulmonary manifestation, which seemed to imply a poor prognosis. However, after recovery of urinary output and pulmonary function she could be discharged home. The gastrointestinal complications in the following months were most likely caused by uraemia, possibly accentuated by the size of the kidneys.

The resulting failure to thrive presented a clear clinical indication to start dialysis therapy. Surprisingly, after interrupting dialysis therapy because of catheter infection, her clinical condition and renal function had stabilized. According to Cole et al. [1], creatinine clearance values of most patients with ARPKD (Autosomal Recessive Polycystic Kidney Disease) show stable or even rising levels during the first 36 months of life,

and are in the same range as in our patient (30–40 ml/ min per 1.73m2 ). To estimate creatinine clearance, calculation of GFR with the Schwartz formula is regarded as an accurate method, especially for infants [6]. In this case, dialysis therapy was a beneficial measure to bridge uraemic symptoms, when conservative management proved to be insufficient.

Children with a perinatal diagnosis of ARPKD (Autosomal Recessive Polycystic Kidney Disease) and Potter sequence may have a poor outcome. Nevertheless, children who survive the neonatal period seem to show a reasonable clinical outcome as in the case of our patient.

Taken together, prognosis should be made with caution, even in children who present with Potter sequence.

From: ' Autosomal recessive polycystic kidney disease improvement of renal function' by Bettina M. Bosch et al

----Eur J Pediatr (2003) 162: 438–439 DOI 10.1007/s00431-003-1189-8

References

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