Background: This review was prompted by the relative paucity of published literature on the management and long term outcomes of BS.
Methods: Retrospective review of medical records of 34 children from three tertiary UK paediatric nephrology centres.
Results: Twenty (59%) children were born prematurely and 22 (65%) were of low birth weight. Twenty-three (68%) were non-Caucasian with 20 (59%) born to consanguineous parents. The commonest genetic mutation detected was CLCNKB (41%). Four (12%) children had profound deafness. Nephrocalcinosis was detected in 14 (41%) children. Of these, seven (50%) were diagnosed with BS within the neonatal period.
Fluid and electrolyte requirements decreased with increasing age. Fluid and potassium requirements were greatest at 12 months of age (131 ± 49 mls/kg/ day and 6.3 ± 7.9 mmol/kg/day, respectively), and sodium requirements greatest at one month (7.7 ± 5.7 mmol/kg/day). Indometacin and captopril were used to reduce polyuria. Central venous access was required in six children (18%) to manage high fluid requirements in early infancy. A naso-gastric tube was required for administration of enteral fluids or medication in 22 (67%) children. Of these, nine (41%) later required surgical insertion of a gastrostomy. Nephrectomy was undertaken in one child.
At 15 years of age, the mean (SD) estimated GFR was 57.1 (25.8) ml/min/per 1.73 m2. Nine (64%) children had developed CKD stage 3 or above. Estimated GFR was significantly lower in the children with nephrocalcinosis, (47.7 (19) ml/min/per 1.73 m2 vs. 74 (30) ml/min/per 1.73 m2, P = 0.03). Mean (SD) height and weight Z scores at 15 years of age were, -1.69 (2.09) and -1.22 (2.57), respectively.
Conclusions: Our report highlights the significant challenges faced by health professionals caring for children with BS. We have shown the progression and prevalence of CKD, short stature and medication requirements through childhood.
Amrit Kaur, Nicholas JA Webb, Mohan Shenoy and Sally A Hulton
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