Pediatr Gastroenterol Hepatol Nutr.  2019 Jul;22(4):392-399. 10.5223/pghn.2019.22.4.392.

Wilson Disease Comorbid with Hereditary Sensory Autonomic Neuropathy Type IV and Gitelman Syndrome

• Kim JY
• Park SS
• Yang HR

• KMID: 2451580
• DOI: http://doi.org/10.5223/pghn.2019.22.4.392

Abstract

Wilson disease a rare autosomal recessive inherited disorder of copper metabolism, is characterized by excessive deposition of copper in the liver, brain, and other tissues. Wilson disease is often fatal if it is not recognized early and treated when it is symptomatic. Gitelman syndrome is also an autosomal recessive kidney disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. Hereditary sensory autonomic neuropathy type IV (HSAN-IV), a very rare condition that presents in infancy, is characterized by anhidrosis, absence of pain sensation, and self-mutilation. It is usually accompanied by developmental delay and mental retardation. We report a case of Wilson disease manifested as fulminant hepatitis, acute pancreatitis, and acute kidney injury in a 15-year-old boy comorbid with HSAN-IV and Gitelman syndrome. Such concurrence of three genetic diseases is an extremely rare case.

Keyword

Wilson disease; Hereditary sensory autonomic neuropathy type IV; Gitelman syndrome; Recessive gene

MeSH Terms

Acute Kidney Injury
Adolescent
Brain
Calcium
Copper
Genes, Recessive
Gitelman Syndrome*
Hepatitis
Hepatolenticular Degeneration*
Humans
Hydrogen-Ion Concentration
Hypohidrosis
Intellectual Disability
Kidney
Liver
Magnesium
Male
Metabolism
Pancreatitis
Potassium
Sensation
Calcium
Copper
Magnesium
Potassium

Figure

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  Fig. 1 Dry skin and mutilated fingertips with multiple fractures and recurrent osteomyelitis.

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  Fig. 2 Liver biopsy revealing centrilobular confluent necrosis with marked copper deposition in hepatocytes and Kuffer cells with extensive lobular disarray. (A) Copper granules (red) in periportal hepatocytes (Rhodamine stain, ×400); (B) centrilobular necrosis of the liver (hematoxylin and eosin stain, ×400).

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  Fig. 3 Gene sequencing of NTRK1 for hereditary sensory autonomic neuropathy type IV revealing (A) c.2002G>T, p.Asp668Tyrc; (B) 360-1G>A mutation.

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  Fig. 4 Gene sequencing of SLC12A3 for Gitelman syndrome in the same patient showing a heterozygote c.1216A>C in exon 10 [p.Asn(AAT)406His(CAT)].

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