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Primary hyperoxaluria type 1: practical and ethical issues

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Abstract

Primary hyperoxaluria type 1 (PH1) is a rare inborn error of glyoxylate metabolism of autosomal recessive inheritance, leading to progressive systemic oxalate storage (named ‘oxalosis’) with a high rate of morbidity and mortality, as well as an unacceptable quality of life for most patients. The adverse outcome, however, is partly due to issues that can be overcome. First, the diagnosis of PH is often delayed due to a general lack of knowledge of the disease among physicians. This accounts specifically for patients with pyridoxine sensitive PH, a group that is paradoxically most easy to treat. Second, lack of adherence to a strict conduction of conservative treatment and optimal urological management may enhance an adverse outcome of the disease. Third, specific techniques to establish PH1 and specific therapies are currently often not available in several low-resources countries with a high prevalence of PH. The management of patients with advanced disease is extremely difficult and warrants a tailor-made approach in most cases. Comprehensive programs for education of local physicians, installation of national centers of expertise, European support of low-resources countries for the management of PH patients and intensified international collaboration on the management of current patients, as well as on conduction of clinical studies, may further improve outcome of PH.

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Author information

Authors and Affiliations

  1. Centre de référence des maladies rénales rares & EPICIME, Hospices Civils de Lyon & Université Claude-Bernard Lyon 1, Lyon, France

    Pierre Cochat

  2. Department of Pediatric Nephrology, Emma Children’s Hospital, Academic Medical Centre, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands

    Jaap Groothoff

  3. Service de pédiatrie, Hôpital Femme Mère Enfant, 59 boulevard Pinel, 69677, Bron Cedex, France

    Pierre Cochat

Authors
  1. Pierre Cochat
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  2. Jaap Groothoff
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Corresponding author

Correspondence to Pierre Cochat.

Additional information

Answers

1: a

2: b

3: c

4: e

5: a

Multiple-choice questions (answers are provided following the reference list)

Multiple-choice questions (answers are provided following the reference list)

  1. 1.

    Primary hyperoxaluria may lead to severe systemic involvement but it is the only peroxisomal disease without:

    1. a.

      Neurodevelopmental delay

    2. b.

      Bone disease

    3. c.

      Ocular involvement

    4. d.

      Cardiovascular involvement

    5. e.

      Dermatological involvement

  2. 2.

    Treatment withdrawal can be acceptable

    1. a.

      In a 30-year-old European female who experienced kidney graft failure to recurrence prior to diagnosing PH1, with 100 % anti-HLA sensitization and a long history on dialysis complicated by fractures

    2. b.

      In a 3-month-old male infant with severe infantile PH1 requiring immediate dialysis and living in sub-Saharan Africa

    3. c.

      In a European male neonate with an older sister who died from complications of proven PH1 at 8 years of age, presenting at 2 weeks of age with significant hyperoxaluria and normal serum creatinine

    4. d.

      In a 50-year-old male with proven PH1 and first symptoms at 20 years of age, having experienced two failing isolated kidney transplantations, refusing liver transplantation

    5. e.

      In a 4-year-old girl living in Central America with proven PH1, starting PD at 2 years of age and suffering from multiple bone fractures, with a possibility of combined transplantation abroad from a living-related donor

  3. 3.

    A diagnosis of PH1 must be investigated in the presence of:

    1. a.

      Repeated spontaneous abortion in the mother

    2. b.

      Low-citrate urolithiasis in adults

    3. c.

      History of nephrolithiasis and impaired GFR

    4. d.

      Dihydrated calcium oxalate crystals in the urine

    5. e.

      Corneal crystal deposits at slit-lamp examination

  4. 4.

    Conventional hemodialysis (i.e., 3 × 4 to 5 h per week) is indicated

    1. a.

      In PH1 children waiting for a combined liver-kidney transplantation

    2. b.

      During the first weeks following any transplantation procedure in PH1 patients

    3. c.

      In order to clear oxalate in selected PH1 patients with a normal GFR

    4. d.

      In PH1 patients when peritoneal dialysis is not available

    5. e.

      If the diagnosis of PH1 has not yet been established

  5. 5.

    The first option for organ transplantation in adult pyridoxine nonresponsive PH1 patients with CKD stage 5 in Europe usually relies on

    1. a.

      Combined liver-kidney transplantation

    2. b.

      Isolated kidney transplantation with intensive pyridoxine treatment post-transplantation

    3. c.

      Partial auxiliary liver transplantation combined with kidney transplantation

    4. d.

      Isolated liver transplantation

    5. e.

      Combined hemodialysis and peritoneal dialysis for 1–2 years prior to transplantation

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Cochat, P., Groothoff, J. Primary hyperoxaluria type 1: practical and ethical issues. Pediatr Nephrol 28, 2273–2281 (2013). https://doi.org/10.1007/s00467-013-2444-5

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  • DOI: https://doi.org/10.1007/s00467-013-2444-5

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