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Erschienen in:
20.04.2022 | Clinical Quiz
A case of chronic kidney disease with pulmonary hypertension, hyperuricemia, immunodeficiency and other extrarenal findings: Answers
Erschienen in: Pediatric Nephrology | Ausgabe 11/2022
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1.
What is the diagnosis?
Our patient had chronic kidney disease, anemia, and hyperuricemia with a positive family history of similar case. Our patient was diagnosed with HUPRA syndrome (Hyperuricemia, pulmonary hypertension, and renal failure in infancy and alkalosis syndrome) with clinical findings (Fig. 1). After receiving informed consent, next-generation sequencing by Miseq-Illumina was done. One homozygous mutation was found; c.515A > G [p.N172S] resulting in p.Asn172Ser and associated with HUPRA syndrome. This mutation was novel, but by in silico analysis, it was demonstrated that the mutation was pathogenic and damaging (PP3).
2.
How should this patient be managed?
Supportive treatment only. She was prescribed allopurinol for hyperuricemia, sodium bicarbonate for acidosis, vitamin D for low vitamin D levels, sildenafil for pulmonary hypertension, immunoglobulin for immunodeficiency, alpha lipoic acid, coenzyme Q10, and L-carnitine for their antioxidant effect and to improve mitochondrial enzymes, thyromazol and propranolol for hyperthyroidism and darbepoetin for anemia of chronic kidney disease.
3.
Which mitochondrial cytopathies present with kidney disease? What are the known kidney findings of mitochondrial diseases?
Fig. 1
Clinical and laboratory findings of the children with HUPRA syndrome
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